McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Identifieur interne : 007087 ( Main/Merge ); précédent : 007086; suivant : 007088McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Auteurs : M T Dotti [Italie] ; C. Battisti ; A. Malandrini ; A. Federico ; J P Rubio ; G. Circiarello ; A P MonacoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Chorea.
- genetics : Chorea, Genetic Linkage, Movement Disorders, X Chromosome.
- DNA Mutational Analysis, Diagnosis, Differential, Humans, Male, Middle Aged, Point Mutation, Severity of Illness Index, Syndrome.
PubMed: 11104227
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pubmed:11104227Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.</title><author><name sortKey="Dotti, M T" sort="Dotti, M T" uniqKey="Dotti M" first="M T" last="Dotti">M T Dotti</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena</wicri:regionArea><wicri:noRegion>University of Siena</wicri:noRegion></affiliation></author><author><name sortKey="Battisti, C" sort="Battisti, C" uniqKey="Battisti C" first="C" last="Battisti">C. Battisti</name></author><author><name sortKey="Malandrini, A" sort="Malandrini, A" uniqKey="Malandrini A" first="A" last="Malandrini">A. Malandrini</name></author><author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name></author><author><name sortKey="Rubio, J P" sort="Rubio, J P" uniqKey="Rubio J" first="J P" last="Rubio">J P Rubio</name></author><author><name sortKey="Circiarello, G" sort="Circiarello, G" uniqKey="Circiarello G" first="G" last="Circiarello">G. Circiarello</name></author><author><name sortKey="Monaco, A P" sort="Monaco, A P" uniqKey="Monaco A" first="A P" last="Monaco">A P Monaco</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2000">2000</date><idno type="RBID">pubmed:11104227</idno><idno type="pmid">11104227</idno><idno type="wicri:Area/PubMed/Corpus">003E38</idno><idno type="wicri:Area/PubMed/Curation">003E38</idno><idno type="wicri:Area/PubMed/Checkpoint">003F44</idno><idno type="wicri:Area/Ncbi/Merge">000413</idno><idno type="wicri:Area/Ncbi/Curation">000413</idno><idno type="wicri:Area/Ncbi/Checkpoint">000413</idno><idno type="wicri:doubleKey">0885-3185:2000:Dotti M:mcleod:syndrome:and</idno><idno type="wicri:Area/Main/Merge">007087</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.</title><author><name sortKey="Dotti, M T" sort="Dotti, M T" uniqKey="Dotti M" first="M T" last="Dotti">M T Dotti</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena</wicri:regionArea><wicri:noRegion>University of Siena</wicri:noRegion></affiliation></author><author><name sortKey="Battisti, C" sort="Battisti, C" uniqKey="Battisti C" first="C" last="Battisti">C. Battisti</name></author><author><name sortKey="Malandrini, A" sort="Malandrini, A" uniqKey="Malandrini A" first="A" last="Malandrini">A. Malandrini</name></author><author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name></author><author><name sortKey="Rubio, J P" sort="Rubio, J P" uniqKey="Rubio J" first="J P" last="Rubio">J P Rubio</name></author><author><name sortKey="Circiarello, G" sort="Circiarello, G" uniqKey="Circiarello G" first="G" last="Circiarello">G. Circiarello</name></author><author><name sortKey="Monaco, A P" sort="Monaco, A P" uniqKey="Monaco A" first="A P" last="Monaco">A P Monaco</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Genetic Linkage (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (genetics)</term><term>Point Mutation</term><term>Severity of Illness Index</term><term>Syndrome</term><term>X Chromosome (genetics)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Genetic Linkage</term><term>Movement Disorders</term><term>X Chromosome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Point Mutation</term><term>Severity of Illness Index</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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