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Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.
Nakano, Eiji; Yoshida, Amine; Miyama, Yudai; Yabuuchi, Tomoo; Kajiho, Yuko; Kanda, Shoichiro; Miura, Kenichiro; Oka, Akira; Harita, Yutaka.
Afiliação
  • Nakano E; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Yoshida A; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Miyama Y; Department of Microbiology, School of Pharmacy, Kitasato University, Tokyo, Japan.
  • Yabuuchi T; Department of Pediatric Nephrology, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Kajiho Y; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
  • Kanda S; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Miura K; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Oka A; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
  • Harita Y; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
J Hum Genet ; 65(10): 831-839, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32427950
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2020 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 Limite: Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article