A carregar...

Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I–III). All patients have at least one (usually 2–4) copies of a highly homologous gene (SMN2) which pro...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Tiziano, Francesco D., Neri, Giovanni, Brahe, Christina
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Diversity Preservation International (MDPI) 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039940/
https://ncbi.nlm.nih.gov/pubmed/21339974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms12010024
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!