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Volumn 58, Issue 4, 1996, Pages 657-670

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA;

EID: 0029865410     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (134)

References (8)
  • 1
    • 0028833176 scopus 로고
    • Molecular etiology of factor VII deficiency in hemophilia A
    • Antonarakis SE, Kazazian HH, Tuddenham EG (1995) Molecular etiology of factor VII deficiency in hemophilia A. Hum Mutat 5:1-22
    • (1995) Hum Mutat , vol.5 , pp. 1-22
    • Antonarakis, S.E.1    Kazazian, H.H.2    Tuddenham, E.G.3
  • 3
    • 0017312807 scopus 로고
    • The sporadic case of haemophilia A
    • Biggs R, Rizza CR (1976) The sporadic case of haemophilia A. Lancet II:431-433.
    • (1976) Lancet , vol.2 , pp. 431-433
    • Biggs, R.1    Rizza, C.R.2
  • 6
    • 0025062523 scopus 로고
    • Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent
    • Casula L, Murru S, Pecorara M, Ristaldi MS, Restagno G, Mancuso G, Morfini M, et al (1990) Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent. Blood 75:662-670
    • (1990) Blood , vol.75 , pp. 662-670
    • Casula, L.1    Murru, S.2    Pecorara, M.3    Ristaldi, M.S.4    Restagno, G.5    Mancuso, G.6    Morfini, M.7
  • 8
    • 0023935490 scopus 로고
    • Nonsense and missense mutations in hemophilia A: Estimate of the relative mutation rate at CG dinucleotides
    • Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH Jr (1988) Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet 42:718-725
    • (1988) Am J Hum Genet , vol.42 , pp. 718-725
    • Youssoufian, H.1    Antonarakis, S.E.2    Bell, W.3    Griffin, A.M.4    Kazazian Jr., H.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.