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Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.
Izumi, Yuichiro; Hamaguchi, Ami; Miura, Rei; Nakagawa, Terumasa; Nakagawa, Miyuki; Saida, Ken; Miyake, Noriko; Nagayoshi, Yu; Kakizoe, Yutaka; Miyoshi, Taku; Kohda, Yukimasa; Misumi, Yohei; Matsumoto, Naomichi; Ando, Yukio; Mukoyama, Masashi.
Afiliação
  • Izumi Y; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan. izumi_yu@kumamoto-u.ac.jp.
  • Hamaguchi A; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Miura R; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Nakagawa T; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Nakagawa M; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Nagayoshi Y; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Kakizoe Y; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Miyoshi T; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Kohda Y; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
  • Misumi Y; Department of Neurology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Ando Y; Department of Neurology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, Japan.
  • Mukoyama M; Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.
CEN Case Rep ; 9(1): 59-64, 2020 02.
Article em En | MEDLINE | ID: mdl-31677115
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colágeno Tipo IV / Sequenciamento do Exoma / Hematúria / Proteínas dos Microfilamentos / Nefrite Hereditária Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: CEN Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colágeno Tipo IV / Sequenciamento do Exoma / Hematúria / Proteínas dos Microfilamentos / Nefrite Hereditária Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: CEN Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Japão