| 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, COL1A2, OI1B , OI2B , OI3B , OI4B
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| Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
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| Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK.
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| Hum Mutat 27(6):599. 2006
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| 3 | COL1A2, OI3B
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| Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.
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| De Paepe A, et al.
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| Hum Genet 99 : 478-483. 1997
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| 4 | COL1A2, OI3B
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| Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.
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| Nuytinck L, Wettinck K, Freund M, Van Maldergem L, Fabry G, De Paepe A.
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| Eur J Hum Genet 5(3):161-7. 1997
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| 5 | OI3B, COL1A2
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| Gly802Asp substitution in the proalpha2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
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| Lund AM, et al.
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| Eur J Hum Genet 4 : 39-45. 1996
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| 6 | COL1A2, OI3B
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| A novel G1006A substitution in the alpha2(I) chain of type I collagen produces osteogenesis imperfecta type III.
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| Lu J, et al.
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| Hum Mutat 5 : 175-178. 1995
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| 7 | COL1A2, OI3B
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| A Gly238Ser substitution in the alpha2 chain of type I collagen results in osteogenesis imperfecta type III.
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| Rose NJ, et al.
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| Hum Genet 95 : 215-218. 1995
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| 8 | OI3B, COL1A2
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| A Gly859Ser substitution in the triple helical domain of the alpha2 of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
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| Rose NJ, et al.
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| Hum Mutat 3 : 391-394. 1994
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| 9 | OI3A, OI3B
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| Osteogenesis imperfecta type III : mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
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| Wallis GA, et al.
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| J Med Genet 30 : 492-496. 1993
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| 10 | OI3B, COL1A2
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| A single amino acid deletion in the alpha-2(I) chain of type I collagen produces osteogenesis imperfecta type III.
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| Molyneux K, et al.
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| Hum Genet 90 : 621-628. 1993
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| 11 | 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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| 12 | 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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