Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy.

@article{Beirowski2006ChronicRF,
  title={Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy.},
  author={Bogdan Beirowski and Manfred Weber and Oliver A. Gross},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2006},
  volume={17 7},
  pages={1986-94}
}
A heterozygous mutation in autosomal Alport genes COL4A3 and COL4A4 can be found in 20 to 50% of individuals with familial benign hematuria and diffuse glomerular basement membrane thinning (thin basement membrane nephropathy [TBMN]). Approximately 1% of humans are heterozygous carriers of mutations in the autosomal Alport genes and at risk for developing renal failure as a result of TBMN. The incidence and pathogenesis of renal failure in heterozygous COL4A3/4 mutation carriers is still… CONTINUE READING
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