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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: Londin, Eric R., Adijanto, Jeffrey, Philp, Nancy, Novelli, Antonio, Vitale, Emilia, Perria, Chiara, Serra, Gigliola, Alesi, Viola, Surrey, Saul, Fortina, Paolo
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker