| 1 | COL1A1, COL1A2, OI3A, OI3B, OI4A, OI4B
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| Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
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| Thiele F, Cohrs CM, Flor A, Lisse TS, Przemeck GK, Horsch M, Schrewe A, Gailus-Durner V, Ivandic B, Katus HA, Wurst W, Reisenberg C, Chaney H, Fuchs H, Hans W, Beckers J, Marini JC, Hrabé de Angelis M.
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| Hum Mol Genet 21(16):3535-45. doi: 10.1093/hmg/dds183. Epub 2012 May 15.
2012
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| 2 | COL1A1, OI1A, OI2A, OI3A, OI4A
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| Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
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| Cabral WA, Milgrom S, Letocha AD, Moriarty E, Marini JC.
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| J Med Genet 43(8):685-90. 2006
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| 3 | OI4A, COL1A1
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| Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta : comparison to previous cases with the same mutation.
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| Zhuang J, et al.
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| Am J Med Genet 61 : 111-116. 1996
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| 4 | COL1A1, OI4A
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| Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.
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| Lund AM, et al.
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| Clin Genet 50 : 304-309. 1996
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| 5 | COL1A2, OI4A
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| Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
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| Bateman JF, et al.
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| Biochem J 276 : 765-770. 1991
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| 6 | COL11A1, OI4A
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| Substitution of cysteine for glycine at residue 415 of one allele of the alpha1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
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| Nicholls AC, et al.
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| J Med Genet 28 : 757-764. 1991
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| 7 | OI1A, OI2A, OI3A, OI3B, OI4A, OI2B
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| Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci : COLIA1 and COLIA2.
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| Sykes B, et al.
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| Am J Hum Genet 46 : 293-307. 1990
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| 8 | OI1A, OI2B, OI3B, OI4A, OI4B, OI2A, OI3A
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| Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
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| Lamande SR, et al.
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| J Biol Chem 264 : 15809-15812. 1989
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| 9 | OI4A, COL1A1
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| Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
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| Marini JC, et al.
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| J Biol Chem 264 : 11893-11900. 1989
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| 10 | OI4A
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| Linkage of mild osteogenesis imperfecta type IV to COL1A2: linkageevidence for heterogeneity between type I and type IV O.I.
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| Tsipouras P, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 763. 1985
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