| 1 | COL1A1, COL1A2, OI2A, OI2B
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| Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
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| Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE.
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| Hum Mol Genet 18(3):463-71. Epub 2008 Nov 7.
2009
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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, OI2B
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| Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB.
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| Mundlos S, et al.
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| J Biol Chem 271 : 21068-21074. 1996
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| 4 | OI2B, COL1A2
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| Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha2-chain of type I collagen.
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| Rose NJ, et al.
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| Hum Genet 94 : 497-503. 1994
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| 5 | OI2B, COL1A2
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| Determination of a new collagen type I alpha2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
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| Gomez-Lira M, et al.
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| J Med Genet 31 : 965-968. 1994
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| 6 | 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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| 7 | OI2B, COL1A2
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| A novel glycine to glutamic acid substitution at position 343 in the alpha2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.
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| Rose NJ, et al.
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| Hum Mol Genet 2 : 2175-2177. 1993
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| 8 | COL1A2, OI2B
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| A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
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| Vikkula M, et al.
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| Genomics 16 : 282-285. 1993
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| 9 | COL1A2, OI2B
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| 2 cysteine substitutions in procollagen-I. A glycine replacement near the N-terminus of alpha1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha2(I) chain markedly destabilizes the triple helix.
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| Fertala A, et al.
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| Biochem J 289 : 195-200. 1993
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| 10 | OI2B, COL1A2
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| Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type 1 collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
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| Edwards MJ, et al.
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| Hum Mutat 1 : 47-54. 1992
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| 11 | OI2B, COL1A2
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| Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
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| Bateman JF, et al.
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| Hum Mutat 1 : 55-62. 1992
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| 12 | OI2B
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| Heterozygous mutation in the G+5 position of intron 33 of thepro-alpha2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.
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| Ganguly A, et al.
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| J Biol Chem 266 : 12035-12040. 1991
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| 13 | 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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| 14 | 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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