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.

Dettagli Bibliografici
Autore principale: J Gordon Millichap
Natura: Articolo
Lingua:English
Pubblicazione: Pediatric Neurology Briefs Publishers 2000-05-01
Serie:Pediatric Neurology Briefs
Soggetti:
Accesso online:https://www.pediatricneurologybriefs.com/articles/1936