Article
Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.
Kidney international - 1 Nov 1994
Nakazato H, Hattori S, Ushijima T, Matsuura T, Koitabashi Y, Takada T, Yoshioka K, Endo F, Matsuda I
Abstract excerpt
Using a combination of gene amplification with single strand conformation polymorphisms analysis and sequencing, we examined the COL4A5 gene in 37 patients with Alport syndrome. In patient A8, a single base insertion was noted at codon 1,597 tyrosine in exon 49. The premature terminal signal appeared and 89 amino acids (approximately one-third) of the non-collagenous domain were lost. The mutation was present in...
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