| 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 | 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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