Загрузка...

Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability

X-linked intellectual disability is the most common form of cognitive disability in males. Syndromic intellectual disability encompasses cognitive deficits with other medical and behavioral manifestations. Recently, a large family with a novel form of syndromic X-linked intellectual disability was c...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Am J Med Genet A
Главные авторы: Londin, Eric R., Adijanto, Jeffrey, Philp, Nancy, Novelli, Antonio, Vitale, Emilia, Perria, Chiara, Serra, Gigliola, Alesi, Viola, Surrey, Saul, Fortina, Paolo
Формат: Artigo
Язык:Inglês
Опубликовано: 2014
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4404493/
https://ncbi.nlm.nih.gov/pubmed/24898194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36629
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!