Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor

Human Molecular Genetics

Volumn 7, Issue 8, 1998, Pages 1311-1315

  Bienvenu, Thierry ^a   Des Portes, Vincent ^a   Saint Martin, Anne ^b   McDonell, Nathalie ^a   Billuart, Pierre ^a   Carrié, Alain ^a   Vinet, Marie Claude ^a   Couvert, Philippe ^a   Toniolo, Daniela ^c   Ropers, Hans Hilger ^d   Moraine, Claude ^e   Van Bokhoven, Hans ^f   Fryns, Jean Pierre ^g   Kahn, Axel ^a   Beldjord, Cherif ^a   Chelly, Jamel ^a  

^a INSTITUT COCHIN   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c Ist Genet Biochim E   (Italy)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e CHU BRETONNEAU   (France)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g Clinical Genetics Unit   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATASE; RAB PROTEIN;

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 7344219887     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.8.1311     Document Type: Article

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