Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH case...

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Detalhes bibliográficos
Main Authors: Tanahashi, Kana, Sugiura, Kazumitsu, Kono, Michihiro, Takama, Hiromichi, Hamajima, Nobuyuki, Akiyama, Masashi
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3929696/
https://ncbi.nlm.nih.gov/pubmed/24586639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0089261
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