| 1 | COL4A4
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| Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy.
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| Baek JI, Choi SJ, Park SH, Choi JY, Kim CD, Kim YL, Kim UK.
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| Indian J Med Res 129(5):525-33.PMID: 19675380 [ 2009
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| 2 | 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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| 3 | COL4A3, COL4A4, DEL2QO, TRIP12
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| Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
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| Doco-Fenzy M, Landais E, Andrieux J, Schneider A, Delemer B, Sulmont V, Melin JP, Ploton D, Thevenard J, Monboisse JC, Belouadah M, Lefebvre F, Durlach A, Goossens M, Albuisson J, Motte J, Gaillard D.
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| Eur J Med Genet 51(6):598-607. Epub 2008 Sep 6. 2008
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| 4 | COL4A3, COL4A4, FBH
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| COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
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| Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C.
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| J Am Soc Nephrol 18(11):3004-16. Epub 2007 Oct 17.PMID: 17942953 2007
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| 5 | 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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| 6 | 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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| 7 | COL4A4, FBH
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| Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.
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| Rana K, Wang YY, Powell H, Jones C, McCredie D, Buzza M, Udawela M, Savige J.
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| Pediatr Nephrol 20(12):1729-37. Epub 2005 Oct 19. 2005
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| 8 | COL4A4, COL4A5, COL3A1
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| Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
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| Nagel M, Nagorka S, Gross O.
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| Hum Mutat 26(1):60. 2005
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| 9 | COL4A4, FBH
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| Mutations in the COL4A4 gene in thin basement membrane disease.
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| Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J.
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| Kidney Int 63(2):447-53. 2003
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| 10 | COL4A3, COL4A4
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| Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
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| Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R.
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| J Am Soc Nephrol 13(5):1248-54. 2002
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| 11 | COL4A3, COL4A4
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| Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36.
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| Momota R, et al.
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| FEBS Lett 424 : 11-16. 1998
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| 12 | 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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| 13 | COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
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| Expression of the alpha1-alpha6 collagen IV chains in the dermoepidermal junction during human foetal skin development : temporal and spatial expression of the alpha4 collagen IV chain in an early stage of development.
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| Tanaka N, et al.
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| Br J Dermatol 139 : 371-374. 1998
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| 14 | 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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| 15 | COL4A3, COL4A4, ATS3
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| Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
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| Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP.
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| Nephrol Dial Transplant 12(8):1595-9. 1997
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| 16 | 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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| 17 | COL4A4
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| Short report on DNA marker at candidate locus. A Taql and a BamHI polymorphism in the COL4A4 gene on chromosome 2q35-37.
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| Hertz JM, et al.
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| Clin Genet 48 : 162-163. 1995
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| 18 | COL4A4
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| Complete primary structure of the human type IV collagen alpha4(IV) chain.
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| Leinonen A, et al.
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| J Biol Chem 269 : 26172-26177. 1994
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| 19 | COL4A3, COL4A4
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| Colocalization of the genes for the alpha3(IV) and alpha4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.
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| Mariyama M, et al.
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| Genomics 13 : 809-813. 1992
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| 20 | COL4A4
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| Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2.
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| Kamagata Y, et al.
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| J Biol Chem 267 : 23753-23758. 1992
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