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.

ग्रंथसूची विवरण
मुख्य लेखक: J Gordon Millichap
स्वरूप: लेख
भाषा:English
प्रकाशित: Pediatric Neurology Briefs Publishers 2000-05-01
श्रृंखला:Pediatric Neurology Briefs
विषय:
ऑनलाइन पहुंच:https://www.pediatricneurologybriefs.com/articles/1936