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Volumn 23, Issue 2, 2006, Pages 192-194

Gene mutation analysis of a Chinese family with osteogenesis imperfecta

Author keywords

COL1A1 gene; Gene mutation; Osteogenesis imperfecta

Indexed keywords

COLLAGEN TYPE 1;

EID: 33646092518     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (10)
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  • 2
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    • Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfecta type II: A case report
    • Teng SW, Guo WY, Sheu MH, et al. Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfecta type II: a case report. Clin Imaging, 2003,27:55-58.
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    • Teng, S.W.1    Guo, W.Y.2    Sheu, M.H.3
  • 3
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    • Genetic heterogeneity in osteogenesis imperfecta
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    • (1979) J Med Genet , vol.16 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 4
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    • Osteogenesis imperfecta
    • Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet, 2004,363:1377-1385.
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    • Rauch, F.1    Glorieux, F.H.2
  • 5
    • 18044385610 scopus 로고    scopus 로고
    • Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta
    • Qin W, He JX, Shi J, et al. Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta. Acta Genetica Sinica, 2005,32: 248-252.
    • (2005) Acta Genetica Sinica , vol.32 , pp. 248-252
    • Qin, W.1    He, J.X.2    Shi, J.3
  • 6
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    • Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta
    • Lund AM, Skovby F, Schwartz M. Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. Hum Mutat, 1997,9:378-382.
    • (1997) Hum Mutat , vol.9 , pp. 378-382
    • Lund, A.M.1    Skovby, F.2    Schwartz, M.3
  • 7
    • 0027360277 scopus 로고
    • Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta
    • Stover ML, Primorac D, Liu SC, et al. Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. J Clin Invest, 1993,92:1994-2002.
    • (1993) J Clin Invest , vol.92 , pp. 1994-2002
    • Stover, M.L.1    Primorac, D.2    Liu, S.C.3
  • 8
    • 0030981996 scopus 로고    scopus 로고
    • Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent
    • Körkkö J, Kuivaniemi H, Paassilta P, et al. Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. Hum Mutat, 1997,9:148-156.
    • (1997) Hum Mutat , vol.9 , pp. 148-156
    • Körkkö, J.1    Kuivaniemi, H.2    Paassilta, P.3
  • 9
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    • Mild dominant osteogenesis imperfecta with intrafamilial variability: The cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene
    • Mottes M, Sangalli A, Valli M. Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene. Hum Genet, 1992,89:480-484.
    • (1992) Hum Genet , vol.89 , pp. 480-484
    • Mottes, M.1    Sangalli, A.2    Valli, M.3
  • 10
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    • Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
    • Hartikka H, Kuurila K, Korkko J, et al. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat, 2004,24:147-154.
    • (2004) Hum Mutat , vol.24 , pp. 147-154
    • Hartikka, H.1    Kuurila, K.2    Korkko, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.