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Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.
Takeuchi, Yoichi; Mishima, Eikan; Shima, Hisato; Akiyama, Yasutoshi; Suzuki, Chitose; Suzuki, Takehiro; Kobayashi, Takayasu; Suzuki, Yoichi; Nakayama, Tomohiro; Takeshima, Yasuhiro; Vazquez, Norma; Ito, Sadayoshi; Gamba, Gerardo; Abe, Takaaki.
Afiliação
  • Takeuchi Y; Department of Clinical Biology and Hormonal Regulation and Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;
  • Mishima E; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;
  • Shima H; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;
  • Akiyama Y; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;
  • Suzuki C; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;
  • Suzuki T; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;
  • Kobayashi T; Department of Biochemistry, Institute of Development, Aging and Cancer, and.
  • Suzuki Y; Department of Education and Training, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan;
  • Nakayama T; Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan;
  • Takeshima Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; and.
  • Vazquez N; Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Ito S; Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;
  • Gamba G; Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Abe T; Department of Clinical Biology and Hormonal Regulation and Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; takaabe@med.tohoku.ac.jp.
J Am Soc Nephrol ; 26(2): 271-9, 2015 Feb.
Article em En | MEDLINE | ID: mdl-25060058
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Mutação de Sentido Incorreto / Síndrome de Gitelman / Terminação da Transcrição Genética Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Mutação de Sentido Incorreto / Síndrome de Gitelman / Terminação da Transcrição Genética Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article