| 1 | ATS2, ATS3, COL4A4
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| Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
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| Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F.
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| Nephrol Dial Transplant 24(5):1464-71. Epub 2009 Jan 7.PMID: 19129241 2009
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| 2 | ATS2, ATS3, COL4A3
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| Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.
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| Cook C, Friedrich CA, Baliga R.
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| Am J Kidney Dis 51(5):e25-8. Epub 2008 Apr 2.PMID: 18436078 2008
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| 3 | ATS2, ATS3, COL4A3, COL4A4, FBH
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| Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
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| Rana K, Tonna S, Wang YY, Sin L, Lin T, Shaw E, Mookerjee I, Savige J.
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| Pediatr Nephrol 22(5):652-7. Epub 2007 Jan 10.PMID: 17216251 2007
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| 4 | COL4A4, ATS2
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| Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
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| Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I.
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| Nephrol Dial Transplant 21(3):665-71. Epub 2005 Dec 7. 2006
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| 5 | ATS2, COL4A4
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| Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
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| Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld JP, Palcoux JB, Gubler MC, Antignac C.
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| Am J Hum Genet 63 : 1329-1340. 1998
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| 6 | ATS1, ATS2, ATSDL, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
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| The clinical spectrum of type IV collagen mutations.
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| Lemmink HH, Schroder CH, Monnens LA, Smeets HJ.
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| Hum Mutat 9(6):477-99. Review. 1997
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| 7 | ATS2, COL4A2
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| Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
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| Lemmink HH, et al.
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| J Clin Invest 98 : 1114-1118. 1996
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| 8 | ATS2, COL4A3
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| Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.
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| Knebelmann B, et al.
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| Hum Mol Genet 4 : 675-679. 1995
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| 9 | COL4A3, ATS2, COL4A4
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| Autosomal recessive Alport syndrome : mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.
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| Ding J, et al.
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| J Am Soc Nephrol 5 : 1714-1717. 1995
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| 10 | COL4A3, ATS2
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| A COL4A3 gene mutation and post-transplant anti-alpha3(IV) collagen alloantibodies in Alport syndrome.
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| Kalluri R, et al.
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| Kidney Int 47 : 1199-1204. 1995
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| 11 | ATS2, COL4A3
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| Mutations in the type IV collagen alpha3 (COL4A3) gene in autosomal recessive Alport syndrome.
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| Lemmink HH, et al.
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| Hum Mol Genet 3 : 1269-1273. 1994
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| 12 | ATS2
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| Identification of mutations in the alpha3(IV) and alpha4(IV) collagen genes in autosomal recessive Alport syndrome.
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| Mochizuki T, et al.
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| Nat Genet 8 : 77-81. 1994
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