MovDisordV3, Main, Exploration, bibRecordById, PMC:3175261

Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia

Identifieur interne : 001527 ( Main/Exploration ); précédent : 001526; suivant : 001528

Mutation 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.

RBID : ISTEX:712F2350CCF270CE375ED908CC57B4E43FFD8BD0

Descripteurs français

Pascal (Inist)
- Maladie de Segawa, Mutation, Pathologie du système nerveux.

English descriptors

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

Url:

DOI: 10.1002/mds.23786

Affiliations:

Le document en format XML

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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>
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<term>GTP Cyclohydrolase (genetics)</term>
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<term>Mutation</term>
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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 :

Descripteurs français

English descriptors

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	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.