Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shephe...
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species. We describe here a novel EB variant in dogs. Two newborn littermates of Central Asian Shepherd dogs with severe signs of skin blister...
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Full title
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs
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TN_cdi_plos_journals_1897800361
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1897800361
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0177527
