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Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
Chong, Yosep; Kim, Minyoung; Koh, Eun Sil; Shin, Seok Joon; Kim, Ho-Shik; Chung, Sungjin.
Afiliação
  • Chong Y; Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
  • Kim M; Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
  • Koh ES; Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
  • Shin SJ; Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
  • Kim HS; Department of Biochemistry, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
  • Chung S; Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. sungjin.chung@outlook.com.
BMC Med Genet ; 17(1): 76, 2016 Oct 24.
Article em En | MEDLINE | ID: mdl-27776503
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Nefropatias / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Nefropatias / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article