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Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
Saitsu, Hirotomo; Yamashita, Sumimasa; Tanaka, Yukichi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Matsumoto, Naomichi.
Afiliação
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Yamashita S; Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tanaka Y; Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
J Hum Genet ; 59(12): 687-90, 2014 Dec.
Article em En | MEDLINE | ID: mdl-25319849
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Epilepsia / Microcefalia / Hipertonia Muscular Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2014 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 Assunto principal: Proteínas Nucleares / Epilepsia / Microcefalia / Hipertonia Muscular Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2014 Tipo de documento: Article