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Volumn 9, Issue 4, 1997, Pages 300-315

Mutations in fibrillar collagens (types I, II, III, and XI), fibril- associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of disease of bone, cartilage, and blood vessels

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE 10; COLLAGEN TYPE 11; COLLAGEN TYPE 2; COLLAGEN TYPE 3; COLLAGEN TYPE 9;

EID: 0030955414     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9     Document Type: Article
Times cited : (293)

References (14)
  • 2
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    • Bateman JF, Lamande SR, Hannagan M, Moeller I, Dahl H-HM, Cole WG (1993) Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta. Am J Med Genet 45:233-240.
    • (1993) Am J Med Genet , vol.45 , pp. 233-240
    • Bateman, J.F.1    Lamande, S.R.2    Hannagan, M.3    Moeller, I.4    Dahl, H.-H.M.5    Cole, W.G.6
  • 3
    • 0021967252 scopus 로고
    • Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II
    • Bonadio J, Byers PH (1985) Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. Nature (London) 316:363-366.
    • (1985) Nature (London) , vol.316 , pp. 363-366
    • Bonadio, J.1    Byers, P.H.2
  • 6
    • 0002560149 scopus 로고
    • Osteogenesis imperfecta
    • Royce PM, Steinmann B (eds) New York: Wiley-Liss
    • Byers PH (1993) Osteogenesis imperfecta. In: Royce PM, Steinmann B (eds) Connective Tissue and Its Heritable Disorders. New York: Wiley-Liss, pp 317-350.
    • (1993) Connective Tissue and Its Heritable Disorders , pp. 317-350
    • Byers, P.H.1
  • 7
    • 0025743952 scopus 로고
    • Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells: Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia
    • Chan D, Cole WG (1991) Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells: Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem 266:12487-12494.
    • (1991) J Biol Chem , vol.266 , pp. 12487-12494
    • Chan, D.1    Cole, W.G.2
  • 8
    • 0028965555 scopus 로고
    • 618 to val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia
    • 618 to val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J Biol Chem 270:4558-4562.
    • (1995) J Biol Chem , vol.270 , pp. 4558-4562
    • Chan, D.1    Cole, W.G.2    Rogers, J.G.3    Bateman, J.F.4
  • 11
  • 12
    • 0019795388 scopus 로고
    • Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis
    • Cole WG, Chan D (1981) Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis. Biochem J 197:377-383.
    • (1981) Biochem J , vol.197 , pp. 377-383
    • Cole, W.G.1    Chan, D.2
  • 13
    • 0024021305 scopus 로고
    • Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
    • Cotton RG, Rodrigues NR, Campbell RD (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 4397-4401
    • Cotton, R.G.1    Rodrigues, N.R.2    Campbell, R.D.3
  • 14
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    • Current methods of mutation detection
    • Cotton RGH (1993) Current methods of mutation detection. Mutat Res 285:125-144.
    • (1993) Mutat Res , vol.285 , pp. 125-144
    • Cotton, R.G.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.