Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

  title={Identification of mutations in the COL4A5 collagen gene in Alport syndrome.},
  author={David F. Barker and Sirkka Liisa Hostikka and Jing Lin Zhou and Louise T. Chow and A R Oliphant and Steve Gerken and Martin C. Gregory and Mark H. Skolnick and Curtis L. Atkin and K. Tryggvason},
  volume={248 4960},
X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered structural protein as the cause of nephritis. The product of COL4A5, the alpha 5(IV) collagen chain, is a specific component of GBM within the kidney, and the gene maps to the same X chromosomal region as does Alport syndrome… CONTINUE READING
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