Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

@article{Lemmink1996BenignFH,
  title={Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.},
  author={Henny H. Lemmink and Willy N Nillesen and Toshio Mochizuki and Cornelis Hendrik Schr{\"o}der and Han G. Brunner and Bernard A. van Oost and Leo Monnens and Hubertus J. M. Smeets},
  journal={The Journal of clinical investigation},
  year={1996},
  volume={98 5},
  pages={1114-8}
}
Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GBM) and normal renal function. It is frequent in patients with persistent microscopic hematuria, but cannot be clinically differentiated from the initial stages of Alport syndrome, a severe GBM disorder which progresses to renal failure. We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3.58 at theta = 0.0… CONTINUE READING

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