Article
Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome.
Journal of the American Society of Nephrology : JASN - 1 Aug 1998
Nakanishi K, Iijima K, Kuroda N, Inoue Y, Sado Y, Nakamura H, Yoshikawa N
Abstract excerpt
X-Linked Alport syndrome is caused by mutations in the type IV collagen alpha5 chain gene. Male patients usually develop end-stage renal disease, whereas female patients have more variable phenotypes from asymptomatic hematuria to end-stage renal disease. The variable phenotypes in female patients may be attributable to different X-chromosome inactivation patterns. Therefore, the correlation between disease...
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