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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...
Autores principales: | Tanahashi, Kana, Sugiura, Kazumitsu, Kono, Michihiro, Takama, Hiromichi, Hamajima, Nobuyuki, Akiyama, Masashi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929696/ https://www.ncbi.nlm.nih.gov/pubmed/24586639 http://dx.doi.org/10.1371/journal.pone.0089261 |
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