A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency

Plectin is a cytoskeleton linker protein expressed in a variety of tissues including skin, muscle, and nerves. Mutations in its gene are associated with epidermolysis bullosa simplex with late-onset muscular dystrophy. Whereas in most of these patients the pathogenic events are mediated by nonsense-...

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Autori principali: Bauer, Johann W., Rouan, Fatima, Kofler, Barbara, Rezniczek, Günther A., Kornacker, Iris, Muss, Wolfgang, Hametner, Rudolf, Klausegger, Alfred, Huber, Ariana, Pohla-Gubo, Gabriele, Wiche, Gerhard, Uitto, Jouni, Hintner, Helmut
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Investigative Pathology 2001
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Regular Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1850321/
https://ncbi.nlm.nih.gov/pubmed/11159198
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