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Volumn 139, Issue 3, 2007, Pages 509-511

Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene [3]

Author keywords

Bleeding disorders; F5F8D; Mutation detection

Indexed keywords

BLOOD CLOTTING FACTOR 5 DEFICIENCY; CHINA; CHROMATOGRAPHY; DISEASE ASSOCIATION; GENE; GENE MUTATION; HEMATURIA; HEMOPHILIA A; HETEROZYGOSITY; HUMAN; LETTER; LMAN1 GENE; MCFD2 GENE; POLYCYTHEMIA VERA; PRIORITY JOURNAL;

EID: 34848882778     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2007.06809.x     Document Type: Letter
Times cited : (9)

References (8)
  • 1
    • 0025364861 scopus 로고
    • The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions
    • Cooper, D.N. Krawczak, M. (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Human Genetics, 85, 55 74.
    • (1990) Human Genetics , vol.85 , pp. 55-74
    • Cooper, D.N.1    Krawczak, M.2
  • 5
    • 0020322169 scopus 로고
    • Combined factor V and factor VIII deficiency among non-Ashkenazi Jews
    • Seligsohn, U., Zivelin, A Zwang, E. (1982) Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. New England Journal of Medicine, 307, 1191 1195.
    • (1982) New England Journal of Medicine , vol.307 , pp. 1191-1195
    • Seligsohn, U.1    Zivelin, A.2    Zwang, E.3
  • 6
    • 13244256852 scopus 로고    scopus 로고
    • Familial multiple coagulation factor deficiencies: New biologic insight from rare genetic bleeding disorders
    • Zhang, B. Ginsburg, D. (2004) Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders. Journal of Thrombosis and Haemostasis, 2, 1564 1572.
    • (2004) Journal of Thrombosis and Haemostasis , vol.2 , pp. 1564-1572
    • Zhang, B.1    Ginsburg, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.