| 1 | ATSDL, COL4A5, SLIT1
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| Assembly of lamina-specific neuronal connections by slit bound to type IV collagen.
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| Xiao T, Staub W, Robles E, Gosse NJ, Cole GJ, Baier H.
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| Cell 146(1):164-76. 2011
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| 2 | ATSDL, COL4A5, COL4A6
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| Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.
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| Oohashi T, Naito I, Ueki Y, Yamatsuji T, Permpoon R, Tanaka N, Naomoto Y, Ninomiya Y.
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| Matrix Biol 30(1):3-8. Epub 2010 Oct 14.
2011
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| 3 | ATSDL, COL4A5, COL4A6
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| LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
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| Segal Y, et al.
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| Am J Hum Genet 64 : 62-69. 1999
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| 4 | ATS1, ATSDL, COL4A5, COL4A6
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| Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
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| Ueki Y, et al.
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| Am J Hum Genet 62 : 253-261. 1998
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| 5 | 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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| 6 | ATSDL, COL4A5, COL4A6
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| Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
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| Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper MJ, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler MC, Antignac C.
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| Cytogenet Cell Genet 78(3-4):240-6. 1997
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| 7 | ATS1, ATSDL, COL4A5, COL4A6
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| Deletions of both alpha5(IV) and alpha6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
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| Heidet L, et al.
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| Hum Mol Genet 4 : 99-108. 1995
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| 8 | ATSDL, COL4A5, COL4A6
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| Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
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| Renieri A, et al.
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| Hum Mutat 4 : 195-198. 1994
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| 9 | ATSDL, COL4A5, COL4A6
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| Deletion of the paired alpha5(IV) and alpha6-IV) collagen genes in inherited smooth muscle tumors.
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| Zhou J, et al.
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| Science 261 : 1167-1169. 1993
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| 10 | ATS1, ATSDL, COL4A5
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| Alport syndrome (AS) and diffuse leiomyomatosis : deletions in the 5' end of the COL4A5 collagen gene.
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| Antignac C, et al.
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| Kidney Int 42 : 1178-1183. 1992
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