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Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
Kobayashi, Kazuhiro; Kato, Reiko; Kondo-Iida, Eri; Taniguchi-Ikeda, Mariko; Osawa, Makiko; Saito, Kayoko; Toda, Tatsushi.
Afiliação
  • Kobayashi K; Division of Molecular Brain Science/Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Kato R; Division of Molecular Brain Science/Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Kondo-Iida E; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
  • Taniguchi-Ikeda M; Division of Molecular Brain Science/Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Osawa M; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Saito K; Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
  • Toda T; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
J Hum Genet ; 62(11): 945-948, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28680109
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Walker-Warburg / Proteínas de Membrana Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Walker-Warburg / Proteínas de Membrana Idioma: En Ano de publicação: 2017 Tipo de documento: Article