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Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.
Sun, Junhui; Zhou, Zhongwei; Weng, Chen; Wang, Chaojun; Chen, Jiao; Feng, Xue; Yu, Ping; Qi, Ming.
Afiliação
  • Sun J; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Research Building A713, Yuhangtang Road 866, Hangzhou, China.
  • Zhou Z; Zhejiang California International Nanosystems Institute, Zhjiang University, Hangzhou, China.
  • Weng C; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Research Building A713, Yuhangtang Road 866, Hangzhou, China.
  • Wang C; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Research Building A713, Yuhangtang Road 866, Hangzhou, China.
  • Chen J; Department of Urology, The First Affiliated Hospital of Zhejiang University, Hangzhou, China.
  • Feng X; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Research Building A713, Yuhangtang Road 866, Hangzhou, China.
  • Yu P; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Research Building A713, Yuhangtang Road 866, Hangzhou, China.
  • Qi M; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Research Building A713, Yuhangtang Road 866, Hangzhou, China.
Clin Exp Nephrol ; 24(8): 657-665, 2020 Aug.
Article em En | MEDLINE | ID: mdl-32394213
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article