| 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, OI4B
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| Deletion of a Gly-Pro-Pro repeat in the proalpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV.
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| Lund AM, et al.
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| Hum Genet 97 : 287-290. 1996
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| 4 | OI4B
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| A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.
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| Zolezzi F, Forlino A, Mottes M, Valli M, Sensi A, Calzolari E, Pignatti PF, Cetta G.
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| Hum Mutat 6(3):268-71. 1995
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| 5 | OI2B, OI4B, COL1A2
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| Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha2(I) collagen chain.
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| Wang Q, et al.
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| J Biol Chem 268 : 25162-25167. 1993
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| 6 | OI4B, COL1A2
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| An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
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| Superti-Furga A, et al.
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| Connect Tissue Res 29 : 31-40. 1993
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| 7 | OI4B, COL1A2
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| Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
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| Marini JC, et al.
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| J Biol Chem 268 : 2667-2673. 1993
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| 8 | COL1A2, OI4B
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| A de novo G+1-A mutation at the alpha2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
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| Filie JD, et al.
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| Hum Mutat 2 : 380-388. 1993
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| 9 | 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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| 10 | COL1A2, OI4B
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| Use to molecular haplotypes specific for the human pro-alpha-2 (I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.
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| Falk CT, et al.
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| Am J Hum Genet 38 : 269-279. 1986
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