Article
Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Aug 2008
Krol Rafal Przybyslaw, Nozu Kandai, Nakanishi Koichi, Iijima Kazumoto, Takeshima Yasuhiro, Fu Xue Jun, Nozu Yoshimi, Kaito Hiroshi, Kanda Kyoko, Matsuo Masafumi, Yoshikawa Norishige
Abstract excerpt
BACKGROUND: Alport syndrome is the most common form of hereditary nephritis and is mainly caused by mutations in the COL4A5 gene, which shows the X-linked form. It is well known that some male Alport syndrome cases show a relatively mild phenotype, but few molecular investigations have been conducted to clarify the mechanism of this phenotype. Methods and results. This report concerns an 8-year-old male sporadic...
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