A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

Desmosomes are the major players in epidermis and cardiac muscles and contribute to intercellular binding and maintenance of tissue integrity. Two important constituents of desmosomes are transmembrane cadherins named desmogleins and desmocollins. The critical role of these desmosomal proteins in ep...

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Detalhes bibliográficos
Main Authors: Ayub, Muhammad, Basit, Sulman, Jelani, Musharraf, Rehman, Fazal Ur, Iqbal, Muhammad, Yasinzai, Masoom, Ahmad, Wasim
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756559/
https://ncbi.nlm.nih.gov/pubmed/19765682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.08.015
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