LymphedemaV1, France, Analysis, bibRecord, 000494

The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

Identifieur interne : 000494 ( France/Analysis ); précédent : 000493; suivant : 000495

The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

Auteurs : Anne Puel ; Janine Reichenbach ; Jacinta Bustamante ; Cheng-Lung Ku ; Jacqueline Feinberg ; Rainer Döffinger ; Marion Bonnet ; Orchidée Filipe-Santos ; Ludovic De Beaucoudrey ; Anne Durandy ; Gerd Horneff ; Francesco Novelli ; Volker Wahn ; Asma Smahi ; Alain Israel [France] ; Tim Niehues [Allemagne] ; Jean-Laurent Casanova

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2006.

RBID : PMC:1424680

Abstract

Amorphic mutations in the NF-κB essential modulator (NEMO) cause X-dominant incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations cause X-recessive anhidrotic ectodermal dysplasia with immunodeficiency, a complex developmental disorder and life-threatening primary immunodeficiency. We characterized the NEMO mutation 110_111insC, which creates the most-upstream premature translation termination codon (at codon position 49) of any known NEMO mutation. Surprisingly, this mutation is associated with a pure immunodeficiency. We solve this paradox by showing that a Kozakian methionine codon located immediately downstream from the insertion allows the reinitiation of translation. The residual production of an NH₂-truncated NEMO protein was sufficient for normal fetal development and for the subsequent normal development of skin appendages but was insufficient for the development of protective immune responses.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1424680

PubMed: 16532398
PubMed Central: 1424680

Affiliations:

Links to Exploration step

PMC:1424680

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The <italic>NEMO</italic>
 Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation</title>
<author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ku, Cheng Lung" sort="Ku, Cheng Lung" uniqKey="Ku C" first="Cheng-Lung" last="Ku">Cheng-Lung Ku</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Feinberg, Jacqueline" sort="Feinberg, Jacqueline" uniqKey="Feinberg J" first="Jacqueline" last="Feinberg">Jacqueline Feinberg</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Döffinger">Rainer Döffinger</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bonnet, Marion" sort="Bonnet, Marion" uniqKey="Bonnet M" first="Marion" last="Bonnet">Marion Bonnet</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Filipe Santos, Orchidee" sort="Filipe Santos, Orchidee" uniqKey="Filipe Santos O" first="Orchidée" last="Filipe-Santos">Orchidée Filipe-Santos</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Beaucoudrey, Ludovic De" sort="Beaucoudrey, Ludovic De" uniqKey="Beaucoudrey L" first="Ludovic De" last="Beaucoudrey">Ludovic De Beaucoudrey</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Durandy, Anne" sort="Durandy, Anne" uniqKey="Durandy A" first="Anne" last="Durandy">Anne Durandy</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Développement Normal et Pathologique du Système Immunitaire, INSERM U429,</nlm:aff>
<wicri:noCountry code="subfield">INSERM U429</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Horneff, Gerd" sort="Horneff, Gerd" uniqKey="Horneff G" first="Gerd" last="Horneff">Gerd Horneff</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Novelli, Francesco" sort="Novelli, Francesco" uniqKey="Novelli F" first="Francesco" last="Novelli">Francesco Novelli</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wahn, Volker" sort="Wahn, Volker" uniqKey="Wahn V" first="Volker" last="Wahn">Volker Wahn</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Smahi, Asma" sort="Smahi, Asma" uniqKey="Smahi A" first="Asma" last="Smahi">Asma Smahi</name>
<affiliation><nlm:aff wicri:cut=", and" id="N0x8a628c8.0x9855550">Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U393</nlm:aff>
<wicri:noCountry code="subfield">INSERM U393</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Israel, Alain" sort="Israel, Alain" uniqKey="Israel A" first="Alain" last="Israel">Alain Israel</name>
<affiliation wicri:level="3"><nlm:aff wicri:cut="; and" id="N0x8a628c8.0x9855550">Unité de Signalisation Moléculaire et Activation Cellulaire, URA 2582 Centre National de la Recherche Scientifique, Institut Pasteur, Paris</nlm:aff>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
<wicri:orgArea>Unité de Signalisation Moléculaire et Activation Cellulaire, URA 2582 Centre National de la Recherche Scientifique, Institut Pasteur</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Niehues, Tim" sort="Niehues, Tim" uniqKey="Niehues T" first="Tim" last="Niehues">Tim Niehues</name>
<affiliation wicri:level="3"><nlm:aff id="N0x8a628c8.0x9855550">Pädiatrische Immunologie und Rheumatologie, Zentrum für Kinderheilkunde, Heinrich Heine Universität, Düsseldorf, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Pädiatrische Immunologie und Rheumatologie, Zentrum für Kinderheilkunde, Heinrich Heine Universität, Düsseldorf</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Düsseldorf</region>
<settlement type="city">Düsseldorf</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">16532398</idno>
<idno type="pmc">1424680</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1424680</idno>
<idno type="RBID">PMC:1424680</idno>
<date when="2006">2006</date>
<idno type="wicri:Area/Pmc/Corpus">000004</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000004</idno>
<idno type="wicri:Area/Pmc/Curation">000004</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000004</idno>
<idno type="wicri:Area/Pmc/Checkpoint">003C24</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">003C24</idno>
<idno type="wicri:Area/Ncbi/Merge">002154</idno>
<idno type="wicri:Area/Ncbi/Curation">002154</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002154</idno>
<idno type="wicri:Area/Main/Merge">007A05</idno>
<idno type="wicri:Area/Main/Curation">007836</idno>
<idno type="wicri:Area/Main/Exploration">007836</idno>
<idno type="wicri:Area/France/Extraction">000494</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The <italic>NEMO</italic>
 Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation</title>
<author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ku, Cheng Lung" sort="Ku, Cheng Lung" uniqKey="Ku C" first="Cheng-Lung" last="Ku">Cheng-Lung Ku</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Feinberg, Jacqueline" sort="Feinberg, Jacqueline" uniqKey="Feinberg J" first="Jacqueline" last="Feinberg">Jacqueline Feinberg</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Döffinger">Rainer Döffinger</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bonnet, Marion" sort="Bonnet, Marion" uniqKey="Bonnet M" first="Marion" last="Bonnet">Marion Bonnet</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Filipe Santos, Orchidee" sort="Filipe Santos, Orchidee" uniqKey="Filipe Santos O" first="Orchidée" last="Filipe-Santos">Orchidée Filipe-Santos</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Beaucoudrey, Ludovic De" sort="Beaucoudrey, Ludovic De" uniqKey="Beaucoudrey L" first="Ludovic De" last="Beaucoudrey">Ludovic De Beaucoudrey</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U550, Faculté de Médecine Necker-Enfants Malades,</nlm:aff>
<wicri:noCountry code="subfield">Faculté de Médecine Necker-Enfants Malades</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Durandy, Anne" sort="Durandy, Anne" uniqKey="Durandy A" first="Anne" last="Durandy">Anne Durandy</name>
<affiliation><nlm:aff id="N0x8a628c8.0x9855550">Développement Normal et Pathologique du Système Immunitaire, INSERM U429,</nlm:aff>
<wicri:noCountry code="subfield">INSERM U429</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Horneff, Gerd" sort="Horneff, Gerd" uniqKey="Horneff G" first="Gerd" last="Horneff">Gerd Horneff</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Novelli, Francesco" sort="Novelli, Francesco" uniqKey="Novelli F" first="Francesco" last="Novelli">Francesco Novelli</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wahn, Volker" sort="Wahn, Volker" uniqKey="Wahn V" first="Volker" last="Wahn">Volker Wahn</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Smahi, Asma" sort="Smahi, Asma" uniqKey="Smahi A" first="Asma" last="Smahi">Asma Smahi</name>
<affiliation><nlm:aff wicri:cut=", and" id="N0x8a628c8.0x9855550">Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U393</nlm:aff>
<wicri:noCountry code="subfield">INSERM U393</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Israel, Alain" sort="Israel, Alain" uniqKey="Israel A" first="Alain" last="Israel">Alain Israel</name>
<affiliation wicri:level="3"><nlm:aff wicri:cut="; and" id="N0x8a628c8.0x9855550">Unité de Signalisation Moléculaire et Activation Cellulaire, URA 2582 Centre National de la Recherche Scientifique, Institut Pasteur, Paris</nlm:aff>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
<wicri:orgArea>Unité de Signalisation Moléculaire et Activation Cellulaire, URA 2582 Centre National de la Recherche Scientifique, Institut Pasteur</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Niehues, Tim" sort="Niehues, Tim" uniqKey="Niehues T" first="Tim" last="Niehues">Tim Niehues</name>
<affiliation wicri:level="3"><nlm:aff id="N0x8a628c8.0x9855550">Pädiatrische Immunologie und Rheumatologie, Zentrum für Kinderheilkunde, Heinrich Heine Universität, Düsseldorf, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Pädiatrische Immunologie und Rheumatologie, Zentrum für Kinderheilkunde, Heinrich Heine Universität, Düsseldorf</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Düsseldorf</region>
<settlement type="city">Düsseldorf</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Amorphic mutations in the NF-κB essential modulator (NEMO) cause X-dominant incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations cause X-recessive anhidrotic ectodermal dysplasia with immunodeficiency, a complex developmental disorder and life-threatening primary immunodeficiency. We characterized the <italic>NEMO</italic>
 mutation <italic>110_111insC,</italic>
 which creates the most-upstream premature translation termination codon (at codon position 49) of any known <italic>NEMO</italic>
 mutation. Surprisingly, this mutation is associated with a pure immunodeficiency. We solve this paradox by showing that a Kozakian methionine codon located immediately downstream from the insertion allows the reinitiation of translation. The residual production of an NH<sub>2</sub>
-truncated NEMO protein was sufficient for normal fetal development and for the subsequent normal development of skin appendages but was insufficient for the development of protective immune responses.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>France</li>
</country>
<region><li>District de Düsseldorf</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Île-de-France</li>
</region>
<settlement><li>Düsseldorf</li>
<li>Paris</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Beaucoudrey, Ludovic De" sort="Beaucoudrey, Ludovic De" uniqKey="Beaucoudrey L" first="Ludovic De" last="Beaucoudrey">Ludovic De Beaucoudrey</name>
<name sortKey="Bonnet, Marion" sort="Bonnet, Marion" uniqKey="Bonnet M" first="Marion" last="Bonnet">Marion Bonnet</name>
<name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Döffinger">Rainer Döffinger</name>
<name sortKey="Durandy, Anne" sort="Durandy, Anne" uniqKey="Durandy A" first="Anne" last="Durandy">Anne Durandy</name>
<name sortKey="Feinberg, Jacqueline" sort="Feinberg, Jacqueline" uniqKey="Feinberg J" first="Jacqueline" last="Feinberg">Jacqueline Feinberg</name>
<name sortKey="Filipe Santos, Orchidee" sort="Filipe Santos, Orchidee" uniqKey="Filipe Santos O" first="Orchidée" last="Filipe-Santos">Orchidée Filipe-Santos</name>
<name sortKey="Horneff, Gerd" sort="Horneff, Gerd" uniqKey="Horneff G" first="Gerd" last="Horneff">Gerd Horneff</name>
<name sortKey="Ku, Cheng Lung" sort="Ku, Cheng Lung" uniqKey="Ku C" first="Cheng-Lung" last="Ku">Cheng-Lung Ku</name>
<name sortKey="Novelli, Francesco" sort="Novelli, Francesco" uniqKey="Novelli F" first="Francesco" last="Novelli">Francesco Novelli</name>
<name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name>
<name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name>
<name sortKey="Smahi, Asma" sort="Smahi, Asma" uniqKey="Smahi A" first="Asma" last="Smahi">Asma Smahi</name>
<name sortKey="Wahn, Volker" sort="Wahn, Volker" uniqKey="Wahn V" first="Volker" last="Wahn">Volker Wahn</name>
</noCountry>
<country name="France"><region name="Île-de-France"><name sortKey="Israel, Alain" sort="Israel, Alain" uniqKey="Israel A" first="Alain" last="Israel">Alain Israel</name>
</region>
</country>
<country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Niehues, Tim" sort="Niehues, Tim" uniqKey="Niehues T" first="Tim" last="Niehues">Tim Niehues</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000494 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000494 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     PMC:1424680
   |texte=   The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:16532398" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

Source :

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.