Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

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 tr...

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Main Authors: 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 
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1821100/
https://ncbi.nlm.nih.gov/pubmed/17273967
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