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01.03.2010 | Brief Report

A family with X-linked benign familial hematuria

verfasst von: Kazunari Kaneko, Sachiyo Tanaka, Masafumi Hasui, Kandai Nozu, Rafal Przybyslaw Krol, Kazumoto Iijima, Keisuke Sugimoto, Tsukasa Takemura

Erschienen in: Pediatric Nephrology | Ausgabe 3/2010

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Abstract

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 added to the list of causative genes for benign familial hematuria, although the mechanism(s) by which the same mutation leads to the distinct phenotypes, i.e. X-linked Alport syndrome or benign familial hematuria, remains unknown.

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Titel: A family with X-linked benign familial hematuria
verfasst von: Kazunari Kaneko
Sachiyo Tanaka
Masafumi Hasui
Kandai Nozu
Rafal Przybyslaw Krol
Kazumoto Iijima
Keisuke Sugimoto
Tsukasa Takemura
Publikationsdatum: 01.03.2010
Verlag: Springer-Verlag
Erschienen in: Pediatric Nephrology / Ausgabe 3/2010
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-009-1370-z

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