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Volumn 27, Issue 5, 1997, Pages 419-421

Advances in the genetics of human chondrodysplasias

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; FIBROBLAST GROWTH FACTOR RECEPTOR; TRANSCRIPTION FACTOR;

EID: 0030956991     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470050159     Document Type: Conference Paper
Times cited : (5)

References (19)
  • 4
    • 0027958472 scopus 로고
    • Amino acid substitutions of conserved residues in the carboxylterminal domain of the alpha 1 (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 carboxylterminal domain of the alpha 1 (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
  • 5
    • 0027976169 scopus 로고
    • Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
    • McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA (1994) Additional mutations 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
    • McIntosh, I.1    Abbott, M.H.2    Warman, M.L.3    Olsen, B.R.4    Francomano, C.A.5
  • 6
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse K, Jüppner H (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268: 98-100
    • (1995) Science , vol.268 , pp. 98-100
    • Schipani, E.1    Kruse, K.2    Jüppner, H.3
  • 16
    • 0027978110 scopus 로고
    • The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure link-age disequilibrium mapping
    • Hästabacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure link-age disequilibrium mapping. Cell 78: 1073-1087
    • (1994) Cell , vol.78 , pp. 1073-1087
    • Hästabacka, J.1    De La Chapelle, A.2    Mahtani, M.M.3    Clines, G.4    Reeve-Daly, M.P.5    Daly, M.6    Hamilton, B.A.7    Kusumi, K.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.