Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

@article{Boye1998DeterminationOT,
  title={Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.},
  author={E Boye and G. S. Mollet and Lionel Forestier and Lola Cohen-Solal and Laurence Heidet and Pierre Cochat and Jean Pierre Gr{\"u}nfeld and Jean Bernard Palcoux and Marie Claire Gubler and Corinne Antignac},
  journal={American journal of human genetics},
  year={1998},
  volume={63 5},
  pages={1329-40}
}
Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in the two genes has been hampered by the lack of genomic structure information. We report here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene… CONTINUE READING

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