Загрузка...

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X‐chromosome inactivation

INTRODUCTION: Rett syndrome (RTT) is an X‐linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. The most common mutations in the gene are p.R168X and p.T158M. The influence of X‐chromosome inactivation (XCI) on clinical severity in patients with RTT...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Archer, Hayley, Evans, Julie, Leonard, Helen, Colvin, Lyn, Ravine, David, Christodoulou, John, Williamson, Sarah, Charman, Tony, Bailey, Mark E S, Sampson, Julian, de Klerk, Nicholas, Clarke, Angus
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 2007
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598067/
https://ncbi.nlm.nih.gov/pubmed/16905679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045260
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!