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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:PLoS One
Main Authors: Niskanen, Julia, Dillard, Kati, Arumilli, Meharji, Salmela, Elina, Anttila, Marjukka, Lohi, Hannes, Hytönen, Marjo K.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker