A carregar...

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

Spinal muscular atrophy (SMA) is an autosomal recessive (AR) neuromuscular disease that is one of the most common lethal genetic disorders in children, with carrier frequencies as high as ∼1 in 35 in US Whites. As part of our genetic studies in the Hutterites from South Dakota, we identified a large...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Chong, Jessica X, Oktay, A Afşin, Dai, Zunyan, Swoboda, Kathryn J, Prior, Thomas W, Ober, Carole
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190247/
https://ncbi.nlm.nih.gov/pubmed/21610747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.85
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!