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Volumn 155, Issue 7, 2011, Pages 1759-1762

Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1

Author keywords

[No Author keywords available]

Indexed keywords

C PROPEPTIDE; CYSTEINE; CYTOSINE; PEPTIDE; THYMINE; UNCLASSIFIED DRUG;

EID: 79959532936     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34056     Document Type: Letter
Times cited : (28)

References (13)
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    • Sequence dependence of the folding of collagen-like peptides. Single amino acids affect the rare of triple-helix nucleation
    • Ackerman MS, Bhate M, Shenoy N, Beck K, Ramshaw JAM, Brodsky B. 1999. Sequence dependence of the folding of collagen-like peptides. Single amino acids affect the rare of triple-helix nucleation. J Biol Chem 274: 7668-7673.
    • (1999) J Biol Chem , vol.274 , pp. 7668-7673
    • Ackerman, M.S.1    Bhate, M.2    Shenoy, N.3    Beck, K.4    Ramshaw, J.A.M.5    Brodsky, B.6
  • 3
    • 59649092384 scopus 로고    scopus 로고
    • Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis
    • Kannu P, Bateman JF, Belluoccio D, Fosang AJ, Savarirayan R. 2009. Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis Rheum 60: 325-334.
    • (2009) Arthritis Rheum , vol.60 , pp. 325-334
    • Kannu, P.1    Bateman, J.F.2    Belluoccio, D.3    Fosang, A.J.4    Savarirayan, R.5
  • 6
    • 34248212202 scopus 로고    scopus 로고
    • A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family
    • Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S. 2007. A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet 121: 625-629.
    • (2007) Hum Genet , vol.121 , pp. 625-629
    • Miyamoto, Y.1    Matsuda, T.2    Kitoh, H.3    Haga, N.4    Ohashi, H.5    Nishimura, G.6    Ikegawa, S.7
  • 7
    • 0034108294 scopus 로고    scopus 로고
    • Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
    • Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. 2000. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet 37: 263-271.
    • (2000) J Med Genet , vol.37 , pp. 263-271
    • Mortier, G.R.1    Weis, M.2    Nuytinck, L.3    King, L.M.4    Wilkin, D.J.5    De Paepe, A.6    Lachman, R.S.7    Rimoin, D.L.8    Eyre, D.R.9    Cohn, D.H.10
  • 10
    • 0035935618 scopus 로고    scopus 로고
    • Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
    • Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. 2001a. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am J Med Genet 104: 140-146.
    • (2001) Am J Med Genet , vol.104 , pp. 140-146
    • Unger, S.1    Korkko, J.2    Krakow, D.3    Lachman, R.S.4    Rimoin, D.L.5    Cohn, D.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.