An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints. In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by gene defects affecting fibrillin-1, a major compone...

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Główni autorzy:	Hannah L Bader, Alison L Ruhe, Lauren W Wang, Aaron K Wong, Kari F Walsh, Rebecca A Packer, Jonathan Mitelman, Kathryn R Robertson, Dennis P O'Brien, Karl W Broman, G Diane Shelton, Suneel S Apte, Mark W Neff
Format:	Artigo
Język:	Inglês
Wydane:	Public Library of Science (PLoS) 2010-09-01
Seria:	PLoS ONE
Dostęp online:	http://europepmc.org/articles/PMC2941456?pdf=render
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