Article
Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.
Journal of the American Society of Nephrology : JASN - 1 May 1996
Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin C L, Netzer K O, Weber M, Reeders S, Grönhagen-Riska C, Neumann H P, Trembath R, Tryggvason K
Abstract excerpt
Conditions for polymerase chain-reaction amplification of ten exon regions (Exons 3, 7, 11 through 13, and 15 through 19) of the collagen COL4A5 gene and four exon regions (Exons 2, and 12 through 14) of the COL4A6 gene were sequenced and established in this study. These Type IV collagen genes contain 51 and 48 exons, respectively. The sequences of these exons were determined in the two genes in 250 male patients...
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