Article
A family with X-linked benign familial hematuria.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2010
Kaneko Kazunari, Tanaka Sachiyo, Hasui Masafumi, Nozu Kandai, Krol Rafal Przybyslaw, Iijima Kazumoto, Sugimoto Keisuke, Takemura Tsukasa
Abstract excerpt
Gene mutations in COL4A5 located on Xq22 are believed to cause X-linked Alport syndrome, whereas mutations in COL4A3 and COL4A4 located on chromosome 2 are associated with autosomal inherited Alport syndrome or benign familial hematuria. A family with benign familial hematuria caused by COL4A5 mutation, implying X-linked transmission, is reported here for the first time. This result suggests that COL4A5 should be...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
