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The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
Izumi, Rumiko; Takahashi, Toshiaki; Suzuki, Naoki; Niihori, Tetsuya; Ono, Hiroya; Nakamura, Naoko; Katada, Shinichi; Kato, Masaaki; Warita, Hitoshi; Tateyama, Maki; Aoki, Yoko; Aoki, Masashi.
Afiliação
  • Izumi R; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Takahashi T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Suzuki N; Department of Neurology, National Hospital Organization Sendai-Nishitaga Hospital, Sendai, Japan.
  • Niihori T; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Ono H; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Nakamura N; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Katada S; Department of Neurology, National Hospital Organization Iwate Hospital, Ichinoseki, Japan.
  • Kato M; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Warita H; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Tateyama M; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Aoki Y; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Aoki M; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Hum Mutat ; 41(9): 1540-1554, 2020 09.
Article em En | MEDLINE | ID: mdl-32400077
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Estudos de Associação Genética / Disferlina / Perfil Genético Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Estudos de Associação Genética / Disferlina / Perfil Genético Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão