| 1 | COL5A1, COL5A2
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| Structural abnormalities of the cornea and lid resulting from collagen V mutations.
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| Segev F, Heon E, Cole WG, Wenstrup RJ, Young F, Slomovic AR, Rootman DS, Whitaker-Menezes D, Chervoneva I, Birk DE.
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| Invest Ophthalmol Vis Sci 47(2):565-73. 2006
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| 2 | COL5A1,COL5A2,EDS1A,EDS2
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| The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
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| Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A.
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| Hum Mutat 25(1):28-37. 2005
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| 3 | COL5A2, COL5A1, COL6A1
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| Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases.
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| Unsold C, Pappano WN, Imamura Y, Steiglitz BM, Greenspan DS.
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| J Biol Chem 277(7):5596-602. Epub 2001 Dec 12. 2002
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| 4 | COL5A2, EDS1B
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| Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.
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| Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG.
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| Hum Mol Genet 7(2):249-55. 1998
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| 5 | COL5A2, EDS2
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| A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
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| Richards AJ, et al.
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| J Med Genet 35 : 846-848. 1998
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| 6 | COL3A1, COL5A2
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| Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.
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| Cutting GR, et al.
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| Genomics 8 : 407-410. 1990
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| 7 | COL5A2
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| A new lethal brittle bone syndrome with increased amount of type V collagen in a patient.
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| Bonaventure J, et al.
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| Am J Med Genet 33 : 299-310. 1989
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| 8 | COL3A1, COL5A2
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| Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.
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| Tsipouras P, et al.
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| Genomics 3 : 275-277. 1988
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| 9 | COL5A2
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| An RFLP in the gene for the human pro-alpha 2 chain of type V collagen (COL5A2).
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| Schwartz RC, et al.
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| Nucleic Acids Res 16 : 5225. 1988
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| 10 | COL3A1, COL5A2
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| The pro alpha 2 (V) collagen gene (COL5A2) maps to 2q14-2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1)
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| Huerre-Jeanpierre C, Henry I, Bernard M, Gallano P, Weil D, Grzeschik KH, Ramirez F, Junien C.
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| Hum Genet 73 : 64-67. 1986
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| 11 | COL3A1, COL5A2
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| Human alpha-1 (III) and alpha-2 (V) procollagen genes are located on the long arm of chromosome 2.
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| Emanuel BS, et al.
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| Proc Natl Acad Sci U S A 82 : 3385-3389. 1985
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