Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Intellectual disability is common. Aristaless-related homeobox (ARX) gene is one of the most frequently mutated and pleiotropic genes, implicated in 10 different phenotypes. More than half of ∼100 reported cases with ARX mutations are due to a recurrent duplication of 24 bp, c.429_452dup, which lead...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499743/
https://ncbi.nlm.nih.gov/pubmed/22490986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.61
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados