| 1 | 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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| 2 | 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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| 3 | 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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| 4 | COL4A3, FBH
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| COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).
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| Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J.
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| Kidney Int 65(3):786-90. 2004
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| 5 | 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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