| 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, 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 | OI1A, OI2A, COL1A1
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| Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
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| Schwarze U, et al.
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| Am J Hum Genet 65(2):336-44. 1999
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| 4 | COL1A1, OI1A, OI2A, OI3A
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| Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I : identification of common sequences of null-allele mutations.
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| Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ.
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| Am J Hum Genet 62(1):98-110. 1998
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| 5 | COL1A1, OI2A
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| SSCP detection of a Gly565Val substitution in the proalpha1(I) collagen chain resulting in osteogenesis imperfecta type II.
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| Mackay K, et al.
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| Hum Genet 91 : 439-444. 1993
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| 6 | OI2A, COL1A1
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| Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-Ala substitution in the alpha1(I) chain.
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| Valli M, et al.
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| Eur J Biochem 211 : 415-420. 1993
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| 7 | COL1A1, OI2A
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| Mutations in the carboxyl-terminal propeptide of the Pro alpha1 (I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.
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| Chessler SD, et al.
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| J Biol Chem 268 : 18218-18225. 1993
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| 8 | OI2A
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| A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.
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| Bonaventure J, et al.
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| Hum Genet 89 : 640-646. 1992
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| 9 | OI2A
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| A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
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| Zhuang JP, Constantinou CD, Ganguly A, Prockop DJ.
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| Am J Hum Genet 48(6):1186-91. 1991
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| 10 | OI2A
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| A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
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| Hawkins JR, et al.
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| J Biol Chem 266 : 22370-22374. 1991
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| 11 | COL1A1, OI2A
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| Substitutions for glycine alpha1-637 and glycine alpha2-694 of type I procollagen in lethal osteogenesis imperfecta.
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| Tsuneyoshi T, et al.
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| J Biol Chem 266 : 15608-15613. 1991
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| 12 | OI2A
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| Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha-I(I) gene (COLIA1) of type 1 collagen in a parent.
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| Wallis GA, et al.
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| Am J Hum Genet 46 : 1034-1040. 1990
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| 13 | OI2A
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| An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.
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| Bonadio J, et al.
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| J Biol Chem 265 : 2262-2268. 1990
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| 14 | COL1A1, OI2A
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| The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro-alpha-1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.
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| Cole WG, et al.
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| J Med Genet 27 : 545-551. 1990
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| 15 | OI2A
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| Phenotypic heterogeneity in osteogenesis imperfecta: the midly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha-1-glycine 904 in a type 1 procollagen gene (COL1A1).
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| Constantinou CD, et al.
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| Am J Hum Genet 47 : 670-679. 1990
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| 16 | OI2A
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| Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha-1(I) chain of type I collagen produces lethal osteogenesis imperfecta.
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| Wallis GA, et al.
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| J Biol Chem 265 : 18628-18633. 1990
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| 17 | 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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| 18 | 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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