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NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.
Okamura, Ken; Hayashi, Masahiro; Abe, Yuko; Kono, Michihiro; Nakajima, Kimiko; Aoyama, Yumi; Nishigori, Chikako; Ishimoto, Hiroshi; Ishimatsu, Yuji; Nakajima, Mika; Hozumi, Yutaka; Suzuki, Tamio.
Afiliación
  • Okamura K; Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Hayashi M; Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Abe Y; Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Kono M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Nakajima K; Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
  • Aoyama Y; Department of Dermatology, Kawasaki Medical School, Kurashiki, Japan.
  • Nishigori C; Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Ishimoto H; Department of Respiratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Ishimatsu Y; Department of Nursing, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Nakajima M; Department of Pediatrics, Hakodate Central General Hospital, Hakodate, Japan.
  • Hozumi Y; Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Suzuki T; Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
Pigment Cell Melanoma Res ; 32(6): 848-853, 2019 11.
Article en En | MEDLINE | ID: mdl-31141302
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Albinismo / Pueblo Asiatico / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Asia Idioma: En Revista: Pigment Cell Melanoma Res Asunto de la revista: NEOPLASIAS Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Albinismo / Pueblo Asiatico / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Asia Idioma: En Revista: Pigment Cell Melanoma Res Asunto de la revista: NEOPLASIAS Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido