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 patient...
Topics
- Adolescent
- Adult
- Basement Membrane
- Child
- Child, Preschool
- Collagen
- Dosage Compensation, Genetic
- Female
- Fluorescent Antibody Technique, Indirect
- Gene Expression
- Genetic Linkage
- Humans
