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A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5.
Yoshida, Kei; Mushimoto, Yuichi; Tanase-Nakao, Kanako; Akiba, Kazuhisa; Ishii, Kanako; Urakami, Tatsuhiko; Sugihara, Shigetaka; Kikuchi, Toru; Fukami, Maki; Narumi, Satoshi.
Afiliación
  • Yoshida K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Mushimoto Y; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
  • Tanase-Nakao K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Akiba K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ishii K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Urakami T; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sugihara S; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
  • Kikuchi T; Department of Pediatrics, Tokyo Women's Medical University Medical Center East, Tokyo, Japan.
  • Fukami M; Department of Pediatrics, Saitama Medical University, Saitama, Japan.
  • Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Clin Pediatr Endocrinol ; 30(4): 179-185, 2021.
Article en En | MEDLINE | ID: mdl-34629740
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Pediatr Endocrinol Año: 2021 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Pediatr Endocrinol Año: 2021 Tipo del documento: Article País de afiliación: Japón