A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

Plectin is a widely expressed cytomatrix component involved in the attachment of the cytoskeleton to the plasma membrane. We have recently reported that the skin and muscles of three patients affected by epidermolysis bullosa simplex with muscular dystrophy (MD-EBS), a genetic disorder characterized...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Chavanas, S, Pulkkinen, L, Gache, Y, Smith, F J, McLean, W H, Uitto, J, Ortonne, J P, Meneguzzi, G
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC507667/
https://ncbi.nlm.nih.gov/pubmed/8941634
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados