MovDisordV3, PubMed, Corpus, bibRecord, 001126

Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.

Identifieur interne : 001126 ( PubMed/Corpus ); précédent : 001125; suivant : 001127

Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.

Auteurs : Nutan Sharma ; Ioanna A. Armata ; Trisha J. Multhaupt-Buell ; Laurie J. Ozelius ; Winnie Xin ; Katherine B. Sims

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.

RBID : pubmed:21674621

English descriptors

KwdEn :
- 5' Untranslated Regions (genetics), DNA Mutational Analysis, Dystonic Disorders (genetics), Family Health, Female, GTP Cyclohydrolase (genetics), Humans, Male, Mutation (genetics).
MESH :
- chemical , genetics : 5' Untranslated Regions, GTP Cyclohydrolase.
- genetics : Dystonic Disorders, Mutation.
- DNA Mutational Analysis, Family Health, Female, Humans, Male.

DOI: 10.1002/mds.23786
PubMed: 21674621

Links to Exploration step

pubmed:21674621

Le document en format XML

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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>
</author>
<author><name sortKey="Multhaupt Buell, Trisha J" sort="Multhaupt Buell, Trisha J" uniqKey="Multhaupt Buell T" first="Trisha J" last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
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<author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
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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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<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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<author><name sortKey="Multhaupt Buell, Trisha J" sort="Multhaupt Buell, Trisha J" uniqKey="Multhaupt Buell T" first="Trisha J" last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
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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>
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<author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
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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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<term>GTP Cyclohydrolase (genetics)</term>
<term>Humans</term>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.</ArticleTitle>
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<Acronym>NS</Acronym>
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<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Brain. 2000 Jun;123 ( Pt 6):1112-21</RefSource>
<PMID Version="1">10825351</PMID>
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<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2010 Oct 15;25(13):2183-7</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 1998 Oct;44(4):649-56</RefSource>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.

Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.

Source :

English descriptors

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