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Volumn 13, Issue 3, 1998, Pages 167-168

Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins

Author keywords

Chorion villus sampling; COL10A1; Metaphyseal chondrodysplasia Schmid type

Indexed keywords

DNA;

EID: 0031826250     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000020831     Document Type: Article
Times cited : (4)

References (6)
  • 3
    • 0029952201 scopus 로고    scopus 로고
    • Mutations within the gene encoding the α1(X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia
    • Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP: Mutations within the gene encoding the α1(X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. J Med Genet 1996;33:450-457.
    • (1996) J Med Genet , vol.33 , pp. 450-457
    • Wallis, G.A.1    Rash, B.2    Sykes, B.3    Bonaventure, J.4    Maroteaux, P.5    Zabel, B.6    Wynne-Davies, R.7    Grant, M.E.8    Boot-Handford, R.P.9
  • 4
    • 0030901286 scopus 로고    scopus 로고
    • Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia
    • Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y: Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Hum Mutat 1997;9:131-135.
    • (1997) Hum Mutat , vol.9 , pp. 131-135
    • Ikegawa, S.1    Nakamura, K.2    Nagano, A.3    Haga, N.4    Nakamura, Y.5
  • 5
    • 0032246754 scopus 로고    scopus 로고
    • Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1
    • Korkko J, Milunsky J, Prockop DJ, Ala-Kokko L: Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1. Hum Mutat 1998;1:S201-S203.
    • (1998) Hum Mutat , vol.1
    • Korkko, J.1    Milunsky, J.2    Prockop, D.J.3    Ala-Kokko, L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.