| Evidence | Deletion in System Syndrom with Kidney Involvment
- Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, et al. Major COL4A5 gene rearrangements in patients with juvenile type Alportsyndrome. Am J Med Genet 1995 Nov 20;59(3):380-5.
- Ding J, Zhou J, Tryggvason K, Kashtan CE, Ding J, Zhou J, Tryggvason K, Kashtan CE, Ding J, Zhou J, Tryggvason K, Kashtan CE COL4A5 deletions in three patients with Alport syndrome and posttransplantantiglomerular basement membrane nephritis. J Am Soc Nephrol 1994 Aug;5(2):161-8.
- Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massella L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, et al., Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massella L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, et al. Small frameshift deletions within the COL4A5 gene in juvenile-onset Alportsyndrome. Hum Genet 1993 Oct;92(4):417-20.
- Netzer KO, Renders L, Zhou J, Pullig O, Tryggvason K, Weber M Deletions of the COL4A5 gene in patients with Alport syndrome. Kidney Int 1992 Dec;42(6):1336-44.
- Vetrie D, Boye E, Flinter F, Bobrow M, Harris A, Vetrie D, Boye E, Flinter F, Bobrow M, Harris A DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) ofindividuals with Alport syndrome: further refinement using pulsed-fieldgel electrophoresis. Genomics 1992 Nov;14(3):624-33.
- Smeets HJ, Melenhorst JJ, Lemmink HH, Schroder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC, et al., Smeets HJ, Melenhorst JJ, Lemmink HH, Schroder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC, et al. Different mutations in the COL4A5 collagen gene in two patients withdifferent features of Alport syndrome. Kidney Int 1992 Jul;42(1):83-8.
- Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K Identification of mutations in the COL4A5 collagen gene in Alportsyndrome. Science 1990 Jun 8;248(4960):1224-7.
- Saito A, Sakatsume M, Yamazaki H, Ogata F, Hirasawa Y, Arakawa M, Saito A, Sakatsume M, Yamazaki H, Ogata F, Hirasawa Y, Arakawa M A deletion mutation in the 3' end of the alpha 5(IV) collagen gene injuvenile-onset Alport syndrome. J Am Soc Nephrol 1994 Mar;4(9):1649-53.
- Mothes H, Heidet L, Arrondel C, Richter KK, Thiele M, Patzer L, Sado Y, Gubler MC, Antignac C, Scheele J Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6deletion associated with a mild form of Alport nephropathy. Nephrol Dial Transplant 2002 Jan;17(1):70-4.
Mutation in System Syndrom with Kidney Involvment
- Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N, Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N Detection of mutations in the COL4A5 gene by SSCP in X-linked Alportsyndrome. Hum Mutat 2001 Aug;18(2):141-8.
- Ermisch B, Gross O, Netzer KO, Weber M, Brandis M, Zimmerhackl LB Sporadic case of X-chromosomal Alport syndrome in a consanguineous family. Pediatr Nephrol 2000 Aug;14(8-9):758-61.
- Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschenes G, Grunfeld JP, Broyer M, Gubler MC, Antignac C Spectrum of mutations in the COL4A5 collagen gene in X-linked Alportsyndrome. Am J Hum Genet 1996 Dec;59(6):1221-32.
- Guo C, Van Damme B, Vanrenterghem Y, Devriendt K, Cassiman JJ, Marynen P Severe alport phenotype in a woman with two missense mutations in the sameCOL4A5 gene and preponderant inactivation of the X chromosome carrying thenormal allele. J Clin Invest 1995 Apr;95(4):1832-7.
- Ding J, Zhou J, Tryggvason K, Kashtan CE, Ding J, Zhou J, Tryggvason K, Kashtan CE, Ding J, Zhou J, Tryggvason K, Kashtan CE COL4A5 deletions in three patients with Alport syndrome and posttransplantantiglomerular basement membrane nephritis. J Am Soc Nephrol 1994 Aug;5(2):161-8.
- Netzer KO, Pullig O, Frei U, Zhou J, Tryggvason K, Weber M COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alportsyndrome. Kidney Int 1993 Feb;43(2):486-92.
- M'Rad R, Sanak M, Deschenes G, Zhou J, Bonaiti-Pellie C, Holvoet-Vermaut L, Heuertz S, Gubler MC, Broyer M, Grunfeld JP, et al. Alport syndrome: a genetic study of 31 families. Hum Genet 1992 Dec;90(4):420-6.
- Smeets HJ, Melenhorst JJ, Lemmink HH, Schroder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC, et al., Smeets HJ, Melenhorst JJ, Lemmink HH, Schroder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC, et al. Different mutations in the COL4A5 collagen gene in two patients withdifferent features of Alport syndrome. Kidney Int 1992 Jul;42(1):83-8.
- Zhou J, Hertz JM, Tryggvason K, Zhou J, Hertz JM, Tryggvason K Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alportsyndrome without hearing loss or ocular lesions: detection by denaturinggradient gel electrophoresis of a PCR product. Am J Hum Genet 1992 Jun;50(6):1291-300.
Other key publications related to this gene
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