Alport syndrome caused by a 5' deletion within the COL4A5 gene

Hum Genet. 1992 Apr;89(1):120-1. doi: 10.1007/BF00207059.

Abstract

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Blotting, Southern
  • Chromosome Deletion*
  • Collagen / genetics*
  • DNA Probes / genetics
  • Humans
  • Male
  • Nephritis, Hereditary / genetics*

Substances

  • DNA Probes
  • Collagen