Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia
Identifieur interne : 001527 ( Main/Curation ); précédent : 001526; suivant : 001528Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia
Auteurs : Nutan Sharma [États-Unis] ; Ioanna A. Armata [États-Unis] ; Trisha J. Multhaupt-Buell [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Winnie Xin [États-Unis] ; Katherine B. Sims [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-09.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : 5' Untranslated Regions, GTP Cyclohydrolase.
- genetics : Dystonic Disorders, Mutation.
- DNA Mutational Analysis, Family Health, Female, Humans, Male.
Url:
- https://api.istex.fr/document/712F2350CCF270CE375ED908CC57B4E43FFD8BD0/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175261
DOI: 10.1002/mds.23786
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia</title>
<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<author><name sortKey="Armata, Ioanna A" sort="Armata, Ioanna A" uniqKey="Armata I" first="Ioanna A." last="Armata">Ioanna A. Armata</name>
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<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
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<author><name sortKey="Multhaupt Uell, Trisha J" sort="Multhaupt Uell, Trisha J" uniqKey="Multhaupt Uell T" first="Trisha J." last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York, New York</wicri:regionArea>
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<author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<author><name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B." last="Sims">Katherine B. Sims</name>
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<wicri:regionArea>Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-09">2011-09</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>5' Untranslated Regions (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Dystonic Disorders (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>GTP Cyclohydrolase (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>5' Untranslated Regions</term>
<term>GTP Cyclohydrolase</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
</keywords>
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<langUsage><language ident="en">en</language>
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