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R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Matsumoto, Yoshiyuki; Morishima, Ken-Ichi; Honda, Akira; Watabe, Shoji; Yamamoto, Misa; Hara, Masayuki; Hasui, Masaki; Saito, Chikako; Takayanagi, Toshimitsu; Yamanaka, Tsutomu; Saito, Nakamichi; Kudo, Hideaki; Okamoto, Nobuhiko; Tsukahara, Masato; Matsuura, Shinya.
Afiliación
  • Matsumoto Y; Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
  • Morishima KI; Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
  • Honda A; Department of Gastroenterology, University of Tsukuba, Tsukuba, Japan.
  • Watabe S; Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
  • Yamamoto M; Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
  • Hara M; General Isotope Center, Tokyo Medical and Dental University, Tokyo, Japan.
  • Hasui M; Hasui Pediatric Clinic, Kanazawa, Japan.
  • Saito C; Department of Psychiatrics, National Sanatorium Hokuriku Hospital, Joe-hana, Japan.
  • Takayanagi T; Department of Pediatrics, National Saga Hospital, Saga, Japan.
  • Yamanaka T; Department of Human Welfare, Okazaki Women's Junior College, Okazaki, Japan.
  • Saito N; Shin-Koga Hospital, Kurume, Japan.
  • Kudo H; Asahigawasou Ryoiku Center Ryoikuen, Okayama, Japan.
  • Okamoto N; Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • Tsukahara M; Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
  • Matsuura S; Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan. shinya@hiroshima-u.ac.jp.
J Hum Genet ; 50(7): 353-356, 2005.
Article en En | MEDLINE | ID: mdl-16044199
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Smith-Lemli-Opitz / Mutación Missense / Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2005 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Smith-Lemli-Opitz / Mutación Missense / Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2005 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido