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Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

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 Asi...

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Foilsithe in:PLoS One
Main Authors: Niskanen, Julia, Dillard, Kati, Arumilli, Meharji, Salmela, Elina, Anttila, Marjukka, Lohi, Hannes, Hytönen, Marjo K.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Public Library of Science 2017
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5426755/
https://ncbi.nlm.nih.gov/pubmed/28493971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0177527
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