Exome sequencing in a family with restless legs syndrome.
Identifieur interne : 000D95 ( Main/Exploration ); précédent : 000D94; suivant : 000D96Exome sequencing in a family with restless legs syndrome.
Auteurs : Anne Weissbach [Allemagne] ; Katharina Siegesmund ; Norbert Brüggemann ; Alexander Schmidt ; Meike Kasten ; Irene Pichler ; Hiltrud Muhle ; Ebba Lohmann ; Thora Lohnau ; Eberhard Schwinger ; Johann Hagenah ; Ulrich Stephani ; Peter P. Pramstaller ; Christine Klein ; Katja LohmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
Descripteurs français
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Adaptor Proteins, Signal Transducing, Cadherins, Membrane Proteins.
- geographic : Germany.
- genetics : Restless Legs Syndrome.
- DNA Mutational Analysis, Exome, Family Health, Female, Genetic Association Studies, Genetic Linkage, Humans, Male, Risk Factors.
Abstract
Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found.
DOI: 10.1002/mds.25191
PubMed: 23192925
Affiliations:
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Le document en format XML
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Pramstaller</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adaptor Proteins, Signal Transducing (genetics)</term><term>Cadherins (genetics)</term><term>DNA Mutational Analysis</term><term>Exome</term><term>Family Health</term><term>Female</term><term>Genetic Association Studies</term><term>Genetic Linkage</term><term>Germany</term><term>Humans</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Restless Legs Syndrome (genetics)</term><term>Risk Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>Cadherins</term><term>Membrane Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Exome</term><term>Family Health</term><term>Female</term><term>Genetic Association Studies</term><term>Genetic Linkage</term><term>Humans</term><term>Male</term><term>Risk Factors</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name><name sortKey="Muhle, Hiltrud" sort="Muhle, Hiltrud" uniqKey="Muhle H" first="Hiltrud" last="Muhle">Hiltrud Muhle</name><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><name sortKey="Siegesmund, Katharina" sort="Siegesmund, Katharina" uniqKey="Siegesmund K" first="Katharina" last="Siegesmund">Katharina Siegesmund</name><name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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