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.

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2000-05-01
Series:Pediatric Neurology Briefs
Subjects:
Online Access:https://www.pediatricneurologybriefs.com/articles/1936
Description
Summary: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.
ISSN:1043-3155
2166-6482