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.

Detalhes bibliográficos
Autor principal: J Gordon Millichap
Formato: Artigo
Idioma:English
Publicado em: Pediatric Neurology Briefs Publishers 2000-05-01
Colecção:Pediatric Neurology Briefs
Assuntos:
Acesso em linha:https://www.pediatricneurologybriefs.com/articles/1936