메뉴 건너뛰기




Volumn 74, Issue 2, 2003, Pages 136-138

Two factor XI mutations in a Chinese family with factor XI deficiency

Author keywords

Chinese; Factor XI deficiency; Nonsense mutation

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 11; GLYCINE; TYROSINE;

EID: 0141730297     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.10396     Document Type: Article
Times cited : (15)

References (10)
  • 2
    • 0033402896 scopus 로고    scopus 로고
    • Heterozygous factor XI deficiency associated with three novel mutations
    • Mitchell M, Cutler J, Thompson S, et al. Heterozygous factor XI deficiency associated with three novel mutations. Br J Haematol 1999;107:763-765.
    • (1999) Br J Haematol , vol.107 , pp. 763-765
    • Mitchell, M.1    Cutler, J.2    Thompson, S.3
  • 3
    • 0034786374 scopus 로고    scopus 로고
    • Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 + G)
    • Dossenbach-Glaninger A, Krugluger W, Schrattbauer K, Eder S, Hopmeier P. Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 + G). Br J Haematol 2001;114:875-877.
    • (2001) Br J Haematol , vol.114 , pp. 875-877
    • Dossenbach-Glaninger, A.1    Krugluger, W.2    Schrattbauer, K.3    Eder, S.4    Hopmeier, P.5
  • 5
    • 0033708931 scopus 로고    scopus 로고
    • Molecular genetic analysis of factor XI deficiency: Identification of five novel gene alterations and the origin of type II mutation in Portuguese families
    • Ventura C, Santos AI, Tavares A, et al. Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. Thromb Haemost 2000;84:833-840.
    • (2000) Thromb Haemost , vol.84 , pp. 833-840
    • Ventura, C.1    Santos, A.I.2    Tavares, A.3
  • 6
    • 0034020027 scopus 로고    scopus 로고
    • A novel mutation that leads to a congenital factor XI deficiency in a Japanese family
    • Sato E, Kawamata N, Kato A, Oshimi K. A novel mutation that leads to a congenital factor XI deficiency in a Japanese family. Am J Hematol 2000;63:165-169.
    • (2000) Am J Hematol , vol.63 , pp. 165-169
    • Sato, E.1    Kawamata, N.2    Kato, A.3    Oshimi, K.4
  • 7
    • 17144456879 scopus 로고    scopus 로고
    • A novel type of factor XI deficiency showing compound genetic abnormalities: A nonsense mutation and an impaired transcription
    • Kawaguchi T, Koga S, Hongo H, et al. A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription. Int J Hematol 2000;71:84-89.
    • (2000) Int J Hematol , vol.71 , pp. 84-89
    • Kawaguchi, T.1    Koga, S.2    Hongo, H.3
  • 8
    • 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, et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002;99:2448-2454.
    • (2002) Blood , vol.99 , pp. 2448-2454
    • Zivelin, A.1    Bauduer, F.2    Ducout, L.3
  • 10
    • 0031927904 scopus 로고    scopus 로고
    • Microsatellite profiles reveal an unexpected genetic relationship between Asian populations
    • Rolf B, Horst B, Eigel A, Sagansermsri T, Brinkmann B, Horst J. Microsatellite profiles reveal an unexpected genetic relationship between Asian populations. Hum Genet 1998;102:647-652.
    • (1998) Hum Genet , vol.102 , pp. 647-652
    • Rolf, B.1    Horst, B.2    Eigel, A.3    Sagansermsri, T.4    Brinkmann, B.5    Horst, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.