Loss of Desmoplakin Tail Causes Lethal Acantholytic Epidermolysis Bullosa

The cytoplasmic plaque protein desmoplakin (DP), which is located in desmosomes, plays a major role in epithelial and muscle cell adhesion by linking the transmembrane cadherins to the cytoplasmic intermediate filament network. Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogen...

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Detalhes bibliográficos
Main Authors: Jonkman, Marcel F., Pasmooij, Anna M. G., Pasmans, Suzanne G. M. A., van den Berg, Maarten P., ter Horst, Henk J., Timmer, Albertus, Pas, Hendri H.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1275614/
https://ncbi.nlm.nih.gov/pubmed/16175511
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