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

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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Bibliographic Details
Main Authors: Julia Niskanen, Kati Dillard, Meharji Arumilli, Elina Salmela, Marjukka Anttila, Hannes Lohi, Marjo K Hytönen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5426755?pdf=render

Internet

http://europepmc.org/articles/PMC5426755?pdf=render

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