Article
Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Dec 2011
Ma Jun, Pan Xiaoxia, Wang Zhaohui, Wang Yingyu, Feng Xiaobei, Ren Hong, Zhang Wen, Chen Xiaonong, Wang Weiming, Chen Nan
Abstract excerpt
BACKGROUND: The clinical and pathological features of Alport syndrome are characterized by abnormalities in the basement membrane collagen network which are composed of the α3, α4 and α5 chains of type IV collagen and usually associated with hearing loss and ocular lesions. The predominant form (85% of AS) is inherited as X-linked mode (XLAS) caused by mutations encoding the α5 chain of type IV collagen gene,...
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