MECP2 Mutations and Rett Syndrome Phenotypes

MECP2 Mutations and Rett Syndrome Phenotypes

Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.

Detalles Bibliográficos
Autor Principal: J Gordon Millichap
Formato: Artigo
Idioma:English
Publicado: Pediatric Neurology Briefs Publishers 2000-05-01
Series:Pediatric Neurology Briefs
Subjects:
rett syndrome
milder phenotypes
x chromosome inactivation
Acceso en liña:https://www.pediatricneurologybriefs.com/articles/1936

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