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.

書目詳細資料
主要作者: J Gordon Millichap
格式: Article
語言:English
出版: Pediatric Neurology Briefs Publishers 2000-05-01
叢編:Pediatric Neurology Briefs
主題:
在線閱讀:https://www.pediatricneurologybriefs.com/articles/1936