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Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
Miyamichi, Daisuke; Asahina, Miki; Nakajima, Junya; Sato, Miho; Hosono, Katsuhiro; Nomura, Takahito; Negishi, Takashi; Miyake, Noriko; Hotta, Yoshihiro; Ogata, Tsutomu; Matsumoto, Naomichi.
Afiliação
  • Miyamichi D; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Asahina M; Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Nakajima J; Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.
  • Sato M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
  • Hosono K; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Nomura T; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Negishi T; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Miyake N; Department of Ophthalmology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Hotta Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
  • Ogata T; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Matsumoto N; Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
J Hum Genet ; 61(9): 839-42, 2016 Sep.
Article em En | MEDLINE | ID: mdl-27225848
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article