A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State.

Yang, Cheng; Song, Yuan; Chen, Zhaowei; Yuan, Xiaohan; Chen, Xinhua; Ding, Guohua; Guan, Yang; McGrath, Mary; Song, Chunhua; Tong, Yongqing; Wang, Huiming

Yang, Cheng; Song, Yuan; Chen, Zhaowei; Yuan, Xiaohan; Chen, Xinhua; Ding, Guohua; Guan, Yang; McGrath, Mary; Song, Chunhua; Tong, Yongqing; Wang, Huiming.

Afiliación

Yang C; Renal Department, Renmin Hospital of Wuhan University, Wuhan, China.
Song Y; Renal Department, Renmin Hospital of Wuhan University, Wuhan, China.
Chen Z; Renal Department, Renmin Hospital of Wuhan University, Wuhan, China.
Yuan X; Renal Department, Renmin Hospital of Wuhan University, Wuhan, China.
Chen X; Renal Department, Renmin Hospital of Wuhan University, Wuhan, China.
Ding G; Renal Department, Renmin Hospital of Wuhan University, Wuhan, China.
Guan Y; Ultrastructure Center, Renmin Hospital of Wuhan University, Wuhan, China.
McGrath M; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, United States.
Song C; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, United States.
Tong Y; Department of Laboratory Science, Renmin Hospital of Wuhan University, Wuhan, China.
Wang H; Renal Department, Renmin Hospital of Wuhan University, Wuhan, China.

Front Genet ; 10: 628, 2019.

Article en En | MEDLINE | ID: mdl-31312213

Palabras clave

Alport syndrome; COL4A4; collagen type IV; genomic variant; hereditary nephropathy; human genetics

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza

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