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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.
Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin CL, Netzer KO, Weber M, Reeders S, Grönhagen-Riska C, Neumann HP, Trembath R, Tryggvason K. Heiskari N, et al. J Am Soc Nephrol. 1996 May;7(5):702-9. doi: 10.1681/ASN.V75702. J Am Soc Nephrol. 1996. PMID: 8738805
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