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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Bibliographische Detailangaben
Hauptverfasser: Ayub, Muhammad, Basit, Sulman, Jelani, Musharraf, Rehman, Fazal Ur, Iqbal, Muhammad, Yasinzai, Masoom, Ahmad, Wasim
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2009
Schlagworte:
Report
Online Zugang: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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