A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome.

@article{Nomura1993ASM,
  title={A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome.},
  author={Sadahiro Nomura and Gengo Osawa and Tao Sai and Teruo Harano and Keiko Harano},
  journal={Kidney international},
  year={1993},
  volume={43 5},
  pages={1116-24}
}
DNA sequence analysis of the alpha 5(IV) collagen chain gene (COL4A5) was carried out between exon 47 and 51, which encode the noncollagenous (NC) domain, in eight Japanese families with Alport's syndrome. In one family with X-linked inheritance of the disease, a point mutation (G to C) was found at the 3' end of exon 49 in the COL4A5. This mutation converted the codon of a conserved methionine-1601 to the codon for isoleucine, and also altered the normal splicing process. The polymerase chain… CONTINUE READING