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...

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Autors principals: Chavanas, S, Pulkkinen, L, Gache, Y, Smith, F J, McLean, W H, Uitto, J, Ortonne, J P, Meneguzzi, G
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC507667/
https://ncbi.nlm.nih.gov/pubmed/8941634
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