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Volumn 93, Issue 6, 2008, Pages 957-958

Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 44949231051     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12540     Document Type: Letter
Times cited : (5)

References (12)
  • 1
    • 34447561460 scopus 로고    scopus 로고
    • XI deficiency
    • Oxford, Blackwell Publishing
    • Seligsohn U. Factor XI deficiency. In: Textbook of Haemophilia. Oxford, Blackwell Publishing 2005. p. 321-7.
    • (2005) Textbook of Haemophilia , pp. 321-327
    • Factor, S.U.1
  • 2
    • 0028899613 scopus 로고
    • One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews
    • Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T, et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 1995;85:429-32.
    • (1995) Blood , vol.85 , pp. 429-432
    • Shpilberg, O.1    Peretz, H.2    Zivelin, A.3    Yatuv, R.4    Chetrit, A.5    Kulka, T.6
  • 3
    • 0021987658 scopus 로고
    • Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds
    • Ragni MV, Sinha D, Seaman F, Lewis JH, Spero JA, Walsh PN. Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds. Blood 1985;65:719-24.
    • (1985) Blood , vol.65 , pp. 719-724
    • Ragni, M.V.1    Sinha, D.2    Seaman, F.3    Lewis, J.H.4    Spero, J.A.5    Walsh, P.N.6
  • 5
    • 0036096074 scopus 로고    scopus 로고
    • Factor XI deficiency in Iranians: Its clinical manifestations in comparison with those of classic hemophilia
    • Peyvandi F, Lak M, Mannucci PM. Factor XI deficiency in Iranians: its clinical manifestations in comparison with those of classic hemophilia. Haematologica 2002;87:512-4.
    • (2002) Haematologica , vol.87 , pp. 512-514
    • Peyvandi, F.1    Lak, M.2    Mannucci, P.M.3
  • 6
    • 43449124745 scopus 로고    scopus 로고
    • Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time PCR reveals their prevalence in healthy and FXI-deficient Italians
    • Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, et al. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time PCR reveals their prevalence in healthy and FXI-deficient Italians. Haematologica 2008;93:715-9.
    • (2008) Haematologica , vol.93 , pp. 715-719
    • Zadra, G.1    Asselta, R.2    Tenchini, M.L.3    Castaman, G.4    Seligsohn, U.5    Mannucci, P.M.6
  • 7
    • 77049137927 scopus 로고
    • New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor
    • Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Experim Biol Med 1953;82:171-4.
    • (1953) Proc Soc Experim Biol Med , vol.82 , pp. 171-174
    • Rosenthal, R.L.1    Dreskin, O.H.2    Rosenthal, N.3
  • 8
    • 0043127149 scopus 로고    scopus 로고
    • O'Connell NM. Factor XI deficiency-from molecular genetics to clinical management. Blood Coagul Fibrinolysis 2003;14:59-64.
    • O'Connell NM. Factor XI deficiency-from molecular genetics to clinical management. Blood Coagul Fibrinolysis 2003;14:59-64.
  • 9
    • 33747159859 scopus 로고    scopus 로고
    • Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy
    • Salomon O, Steinberg DM, Seligsohn U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia 2006;12:490-3.
    • (2006) Haemophilia , vol.12 , pp. 490-493
    • Salomon, O.1    Steinberg, D.M.2    Seligsohn, U.3
  • 10
    • 0036530032 scopus 로고    scopus 로고
    • Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene
    • Zivelin A, Bauduer F, Ducout L, Peretz H, Rosemberg N, Yatuv R, et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002;99:2448-54.
    • (2002) Blood , vol.99 , pp. 2448-2454
    • Zivelin, A.1    Bauduer, F.2    Ducout, L.3    Peretz, H.4    Rosemberg, N.5    Yatuv, R.6
  • 11
    • 4444331157 scopus 로고    scopus 로고
    • Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation
    • Quelin F, Trossaert M, Sigaud M, Mazancourt PDE, Fressinaud E. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. J Thromb Haemost 2004;2:71-6
    • (2004) J Thromb Haemost , vol.2 , pp. 71-76
    • Quelin, F.1    Trossaert, M.2    Sigaud, M.3    Mazancourt, P.D.E.4    Fressinaud, E.5
  • 12
    • 4444317749 scopus 로고    scopus 로고
    • A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency
    • Bolton-Maggs PH, Peretz H, Butler R, Mountford R, Keeney S, Zacharski L, et al. A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. J Thromb Haemost 2004;2:918-24.
    • (2004) J Thromb Haemost , vol.2 , pp. 918-924
    • Bolton-Maggs, P.H.1    Peretz, H.2    Butler, R.3    Mountford, R.4    Keeney, S.5    Zacharski, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.