Movement Disorders (revue)

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Mutation in 5' Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia

Identifieur interne : 000405 ( PascalFrancis/Corpus ); précédent : 000404; suivant : 000406

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 :

RBID : Pascal:11-0444629

Descripteurs français

English descriptors


Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08 01  1  ENG  @1 Mutation in 5' Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A11 01  1    @1 SHARMA (Nutan)
A11 02  1    @1 ARMATA (Ioanna A.)
A11 03  1    @1 MULTHAUPT-BUELL (Trisha J.)
A11 04  1    @1 OZELIUS (Laurie J.)
A11 05  1    @1 WINNIE XIN
A11 06  1    @1 SIMS (Katherine B.)
A14 01      @1 Department of Neurology, Massachusetts General Hospital @2 Boston, Massachusetts @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut.
A14 02      @1 Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York @2 New York @3 USA @Z 4 aut.
A14 03      @1 Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital @2 Boston, Massachusetts @3 USA @Z 5 aut. @Z 6 aut.
A20       @2 p. 2140
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A44       @0 0000 @1 © 2011 INIST-CNRS. All rights reserved.
A45       @0 5 ref.
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C03 02  X  SPA  @0 Sistema nervioso patología @5 02
C03 03  X  FRE  @0 Mutation @5 09
C03 03  X  ENG  @0 Mutation @5 09
C03 03  X  SPA  @0 Mutación @5 09
C07 01  X  FRE  @0 Maladie héréditaire @5 37
C07 01  X  ENG  @0 Genetic disease @5 37
C07 01  X  SPA  @0 Enfermedad hereditaria @5 37
N21       @1 305
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 11-0444629 INIST
ET : Mutation in 5' Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
AU : SHARMA (Nutan); ARMATA (Ioanna A.); MULTHAUPT-BUELL (Trisha J.); OZELIUS (Laurie J.); WINNIE XIN; SIMS (Katherine B.)
AF : Department of Neurology, Massachusetts General Hospital/Boston, Massachusetts/Etats-Unis (1 aut., 2 aut., 3 aut.); Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York/New York/Etats-Unis (4 aut.); Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital/Boston, Massachusetts/Etats-Unis (5 aut., 6 aut.)
DT : Publication en série; Correspondance, lettre; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2011; Vol. 26; No. 11; p. 2140; Bibl. 5 ref.
LA : Anglais
CC : 002B17; 002B17H
FD : Maladie de Segawa; Pathologie du système nerveux; Mutation
FG : Maladie héréditaire
ED : Segawa disease; Nervous system diseases; Mutation
EG : Genetic disease
SD : Segawa enfermedad; Sistema nervioso patología; Mutación
LO : INIST-20953.354000509954560330
ID : 11-0444629

Links to Exploration step

Pascal:11-0444629

Le document en format XML

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