메뉴 건너뛰기




Volumn 11, Issue SUPPL 1, 1998, Pages

Use of conformation sensitive gel electrophoresis to detect singlebase changes in the gene for COL10A1

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; DNA;

EID: 0032246754     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110165     Document Type: Article
Times cited : (9)

References (20)
  • 2
    • 0029061409 scopus 로고
    • Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias
    • Bonaventure J, Chaminade F, Maroteaux P (1995) Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. Hum Genet 96:58-64.
    • (1995) Hum Genet , vol.96 , pp. 58-64
    • Bonaventure, J.1    Chaminade, F.2    Maroteaux, P.3
  • 3
    • 0028965555 scopus 로고
    • Bateman Type X collagen multimer assembly in vitro is prevented by a Gly to Val muta-tion in the al (X) NCI domain resulting in Schmid metaphyseal chondrodysplasia
    • Chan D, Cole WG, Rogers JG, Bateman (1995) Type X collagen multimer assembly in vitro is prevented by a Gly to Val muta-tion in the al (X) NCI 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
  • 4
    • 0027518279 scopus 로고
    • 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
  • 5
    • 0026640704 scopus 로고
    • Poly-merase chain reaction - amplification of the coding sequence of the type X collagen gene from genomic DNA and identification of a polymorphism that changes Gly to Arg at position 545 by single-strand conformation polymorphism analysis
    • Dharmavaram RM, Peng M, Strawbridge RP, Jimenez SA (1992) Poly-merase chain reaction - amplification of the coding sequence of the type X collagen gene from genomic DNA and identification of a polymorphism that changes Gly to Arg at position 545 by single-strand conformation polymorphism analysis. Biochem Bio-phys Res Commun 187:420-424.
    • (1992) Biochem Bio-phys Res Commun , vol.187 , pp. 420-424
    • Dharmavaram, R.M.1    Peng, M.2    Strawbridge, R.P.3    Jimenez, S.A.4
  • 7
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments
    • Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments. Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329.
    • (1993) Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 8
    • 0028826647 scopus 로고
    • Application of heteroduplex analysis for mutation detection in disease genes
    • Glavac D, Dean M (1995) Application of heteroduplex analysis for mutation detection in disease genes. Hum Mutat 6:281-287.
    • (1995) Hum Mutat , vol.6 , pp. 281-287
    • Glavac, D.1    Dean, M.2
  • 9
    • 0027488970 scopus 로고
    • Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition
    • Jacenko O, LuValle PA, Olsen BR (1993) Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Na-ture 365:56-61.
    • (1993) Na-ture , vol.365 , pp. 56-61
    • Jacenko, O.1    LuValle, P.A.2    Olsen, B.R.3
  • 10
    • 0023881159 scopus 로고
    • Metaphyseal chondro-dysplasia, Schmid type: Clinical and radiographic delineation with a review of the literature
    • Lachman RS, Rimoin DL, Spranger J (1988) Metaphyseal chondro-dysplasia, Schmid type: Clinical and radiographic delineation with a review of the literature. Pediatr Radiol 18:93-102.
    • (1988) Pediatr Radiol , vol.18 , pp. 93-102
    • Lachman, R.S.1    Rimoin, D.L.2    Spranger, J.3
  • 11
    • 0027976169 scopus 로고
    • Additional mutation of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
    • Mclntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA (1994) Additional mutation of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum Mol Genet 3:303-307.
    • (1994) Hum Mol Genet , vol.3 , pp. 303-307
    • Mclntosh, I.1    Abbott, M.H.2    Warman, M.L.3    Olsen, B.R.4    Francomano, C.A.5
  • 12
    • 0028961999 scopus 로고
    • Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen
    • Mclntosh I, Abbott MH, Francomano CA (1995) Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. Hum Mutat 5:121-125.
    • (1995) Hum Mutat , vol.5 , pp. 121-125
    • Mclntosh, I.1    Abbott, M.H.2    Francomano, C.A.3
  • 13
    • 0026584169 scopus 로고
    • Hydrolink gels: A rapid and simple ap-proach to the detection of DNA mutations in thromboembolic disease
    • Perry DJ, Carrell RW (1992) Hydrolink gels: A rapid and simple ap-proach to the detection of DNA mutations in thromboembolic disease. J Clin Pathol 45:158-160.
    • (1992) J Clin Pathol , vol.45 , pp. 158-160
    • Perry, D.J.1    Carrell, R.W.2
  • 17
    • 0027958472 scopus 로고
    • Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the al(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid
    • Wallis GA, Rash B, Sweetman WA, Thomas JT, Super M, Evans G, Grant ME, Boot-Handford RP (1994) Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the al(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. Am J Hum Genet 54:169-178.
    • (1994) Am J Hum Genet , vol.54 , pp. 169-178
    • Wallis, G.A.1    Rash, B.2    Sweetman, W.A.3    Thomas, J.T.4    Super, M.5    Evans, G.6    Grant, M.E.7    Boot-Handford, R.P.8
  • 19
    • 0026549893 scopus 로고
    • De-tecting single base substitutions as heteroduplex polymorphisms
    • White MG, Carvalho M, Derse D, O'Brien SJ, Dean M (1992) De-tecting single base substitutions as heteroduplex polymorphisms. Genomics 12:301-306.
    • (1992) Genomics , vol.12 , pp. 301-306
    • White, M.G.1    Carvalho, M.2    Derse, D.3    O'Brien, S.J.4    Dean, M.5
  • 20
    • 0028899568 scopus 로고
    • Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII
    • Youil R, Kemper BW, Cotton RGH (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc Nad Acad Sci USA 92:87-91.
    • (1995) Proc Nad Acad Sci USA , vol.92 , pp. 87-91
    • Youil, R.1    Kemper, B.W.2    Cotton, R.G.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.