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Volumn 92, Issue 7, 2007, Pages 1002-1003

Molecular basis of hereditary factor VII deficiency in India: Five novel mutations including a double missense mutation (Alal91Glu; Trp364Cys) in 11 unrelated patients

Author keywords

Factor VII; India; Mutation

Indexed keywords

MESSENGER RNA; BLOOD CLOTTING FACTOR 7;

EID: 34548792820     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.10835     Document Type: Article
Times cited : (19)

References (10)
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    • http://193.60.222.13/index.htm. MRC Factor VII mutation database.
  • 2
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    • Molecular genetics of hereditary prothrombin deficiency in Indian patients: Identification of a novel Ala362 - >Thr (Prothrombin Vellore 1) mutation
    • Jayandharan G, Viswabandya A, Baidya S, Nair SC, Shaji RV, Chandy M, et al. Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 - >Thr (Prothrombin Vellore 1) mutation. J Thromb Haemost 2005;3:1482-7.
    • (2005) J Thromb Haemost , vol.3 , pp. 1482-1487
    • Jayandharan, G.1    Viswabandya, A.2    Baidya, S.3    Nair, S.C.4    Shaji, R.V.5    Chandy, M.6
  • 3
    • 0031473847 scopus 로고    scopus 로고
    • SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
    • Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997; 18:2714-23.
    • (1997) Electrophoresis , vol.18 , pp. 2714-2723
    • Guex, N.1    Peitsch, M.C.2
  • 4
    • 0033786967 scopus 로고    scopus 로고
    • Homozygous 2bp deletion in the human factor VII gene: A non-lethal mutation that is associated with a complete absence of circulating factor VII
    • Peyvandi F, Mannucci PM, Jenkins PV, Lee A, Coppola R, Perry DJ. Homozygous 2bp deletion in the human factor VII gene: a non-lethal mutation that is associated with a complete absence of circulating factor VII. Thromb Haemost 2000;84:635-7.
    • (2000) Thromb Haemost , vol.84 , pp. 635-637
    • Peyvandi, F.1    Mannucci, P.M.2    Jenkins, P.V.3    Lee, A.4    Coppola, R.5    Perry, D.J.6
  • 6
    • 0033867990 scopus 로고    scopus 로고
    • Molecular characterization and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency
    • Peyvandi F, Jenkins PV, Mannucci PM, Billio A, Zeinali S, Perkins SJ, et al. Molecular characterization and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency Thromb Haemost 2000;84:250-7.
    • (2000) Thromb Haemost , vol.84 , pp. 250-257
    • Peyvandi, F.1    Jenkins, P.V.2    Mannucci, P.M.3    Billio, A.4    Zeinali, S.5    Perkins, S.J.6
  • 7
    • 0035131432 scopus 로고    scopus 로고
    • Study Group of Factor Seven Deficiency. Analysis of the genotypes and phenorypes of 37 unrelated patients with inherited factor VII deficiency
    • Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C, Jeanjean P, Igual H, Schved JF, Study Group of Factor Seven Deficiency. Analysis of the genotypes and phenorypes of 37 unrelated patients with inherited factor VII deficiency. Eur J Hum Genet 2001;9:105-12.
    • (2001) Eur J Hum Genet , vol.9 , pp. 105-112
    • Giansily-Blaizot, M.1    Aguilar-Martinez, P.2    Biron-Andreani, C.3    Jeanjean, P.4    Igual, H.5    Schved, J.F.6
  • 8
    • 0034091518 scopus 로고    scopus 로고
    • Twenty two novel mutations of the factor VII gene in factor VII deficiency
    • Wulff K, Herrmann FH. Twenty two novel mutations of the factor VII gene in factor VII deficiency. Hum Mutat 2000;15:489-96.
    • (2000) Hum Mutat , vol.15 , pp. 489-496
    • Wulff, K.1    Herrmann, F.H.2
  • 9
    • 0141426706 scopus 로고    scopus 로고
    • Complexity of the genetic contribution to factor VII deficiency in two Spanish families: Clinical and biological implications
    • Sabater-Lleal M, Martinez-Marchan E, Martinez-Sanchez E, Coll M, Vallve C, Mateo J, et al. Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications. Haematologica 2003;88:906-13.
    • (2003) Haematologica , vol.88 , pp. 906-913
    • Sabater-Lleal, M.1    Martinez-Marchan, E.2    Martinez-Sanchez, E.3    Coll, M.4    Vallve, C.5    Mateo, J.6
  • 10
    • 0004330552 scopus 로고
    • Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation
    • O'Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, et al. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci USA 1987;84:5158-62.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 5158-5162
    • O'Hara, P.J.1    Grant, F.J.2    Haldeman, B.A.3    Gray, C.L.4    Insley, M.Y.5    Hagen, F.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.