A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep.

Junctional epidermolysis bullosa (JEB) is a hereditary mechanobullous skin disease in humans and animals. A Herlitz type JEB was identified in German Black Headed Mutton (BHM) sheep and affected lambs were reproduced in a breeding trial. Affected lambs showed skin and mucous membranes blistering and...

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Bibliographic Details
Main Authors: Stefanie Mömke, Andrea Kerkmann, Anne Wöhlke, Miriam Ostmeier, Marion Hewicker-Trautwein, Martin Ganter, James Kijas, International Sheep Consortium, Ottmar Distl
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3087721?pdf=render