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Volumn 24, Issue 3, 2009, Pages 433-437

ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR 1; ACVR1 PROTEIN, HUMAN;

EID: 67649232919     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2009.24.3.433     Document Type: Article
Times cited : (15)

References (14)
  • 1
    • 34548457296 scopus 로고    scopus 로고
    • Functional modeling of the ACVR1 (R206H) mutation in FOP
    • Groppe JC, Shore EM, Kaplan FS. Functional modeling of the ACVR1 (R206H) mutation in FOP. Clin Orthop Relat Res 2007; 462: 87-92.
    • (2007) Clin Orthop Relat Res , vol.462 , pp. 87-92
    • Groppe, J.C.1    Shore, E.M.2    Kaplan, F.S.3
  • 6
    • 0019945249 scopus 로고
    • Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients
    • Connor JM, Evans DA. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br 1982; 64: 76-83.
    • (1982) J Bone Joint Surg Br , vol.64 , pp. 76-83
    • Connor, J.M.1    Evans, D.A.2
  • 7
    • 25844523629 scopus 로고    scopus 로고
    • Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva
    • Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005; 116: e654-61.
    • (2005) Pediatrics , vol.116
    • Kitterman, J.A.1    Kantanie, S.2    Rocke, D.M.3    Kaplan, F.S.4
  • 9
    • 34247607292 scopus 로고    scopus 로고
    • The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva
    • Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S. The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet 2007; 52: 473-5.
    • (2007) J Hum Genet , vol.52 , pp. 473-5
    • Nakajima, M.1    Haga, N.2    Takikawa, K.3    Manabe, N.4    Nishimura, G.5    Ikegawa, S.6
  • 10
    • 33751292150 scopus 로고    scopus 로고
    • De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva
    • Lin GT, Chang HW, Liu CS, Huang PJ, Wang HC, Cheng YM. De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. J Hum Genet 2006; 51: 1083-6.
    • (2006) J Hum Genet , vol.51 , pp. 1083-6
    • Lin, G.T.1    Chang, H.W.2    Liu, C.S.3    Huang, P.J.4    Wang, H.C.5    Cheng, Y.M.6
  • 13
    • 0030966521 scopus 로고    scopus 로고
    • Fibrodysplasia ossificans progressiva (FOP)
    • Kaplan FS, Smith RM. Fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res 1997; 12: 855.
    • (1997) J Bone Miner Res , vol.12 , pp. 855
    • Kaplan, F.S.1    Smith, R.M.2
  • 14
    • 0034303523 scopus 로고    scopus 로고
    • The origins, patterns and implications of human spontaneous mutation
    • Crow JF. The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 2000; 1: 40-7.
    • (2000) Nat Rev Genet , vol.1 , pp. 40-7
    • Crow, J.F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.