Article
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
American journal of human genetics - 1 Mar 2007
Basel-Vanagaite Lina, Attia Revital, Ishida-Yamamoto Akemi, Rainshtein Limor, Ben Amitai Dan, Lurie Raziel, Pasmanik-Chor Metsada, Indelman Margarita, Zvulunov Alex, Saban Shirley, Magal Nurit, Sprecher Eli, Shohat Mordechai
Abstract excerpt
In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, characterized by congenital ichthyosis associated with abnormal hair. Using homozygosity mapping, we mapped the disease locus to 11q24.3-q25. We screened the ST14 gene, which encodes matriptase, since transplantation of skin from matriptase(-/-)-knockout mice onto adult athymic nude mice has been shown elsewhere to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.