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Volumn 107, Issue 3, 1999, Pages 560-562

Grandpaternal mosaicism in a family with isolated haemophilia A

Author keywords

Genetic counselling; Haemophilia A; Mosaic; Mutation

Indexed keywords

ARTICLE; DNA DETERMINATION; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HEMOPHILIA A; HUMAN; MOSAICISM; PRIORITY JOURNAL;

EID: 0032722884     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01743.x     Document Type: Article
Times cited : (8)

References (10)
  • 3
    • 0020039615 scopus 로고
    • Enzyme immunoassay for factor VIII-related antigen
    • Cejka, J. (1982) Enzyme immunoassay for factor VIII-related antigen. Clinical Chemistry, 28, 1356-1358.
    • (1982) Clinical Chemistry , vol.28 , pp. 1356-1358
    • Cejka, J.1
  • 4
    • 85038143981 scopus 로고    scopus 로고
    • Clinical Sciences Centre, Imperial College Medical School, Hammersmith Hospital, London, version 4.0 beta, October 1997
    • Haemostasis Research Group at Medical Research Centre (1997) HAMSTeRS: Haemophilia A mutation database. Clinical Sciences Centre, Imperial College Medical School, Hammersmith Hospital, London, version 4.0 beta, October 1997.
    • (1997) HAMSTeRS: Haemophilia A Mutation Database
  • 5
    • 0024492094 scopus 로고
    • Mosaicism and sporadic haemophilia: Implications for carrier determination
    • Gitschier, J., Levinson, B., Lehesjoki, A.-E. & de la Chapelle, A. (1989) Mosaicism and sporadic haemophilia: implications for carrier determination. Lancet, i, 273-274.
    • (1989) Lancet , vol.1 , pp. 273-274
    • Gitschier, J.1    Levinson, B.2    Lehesjoki, A.-E.3    De La Chapelle, A.4
  • 7
    • 0023242425 scopus 로고
    • An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences
    • Kogan, S.C., Doherty, M. & Gitschier, J. (1987) An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. New England Journal of Medicine, 317, 985-990.
    • (1987) New England Journal of Medicine , vol.317 , pp. 985-990
    • Kogan, S.C.1    Doherty, M.2    Gitschier, J.3
  • 9
    • 0029886287 scopus 로고    scopus 로고
    • Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods
    • Rudzki, Z., Duncan, E.M., Casey, G.J., Neuman, M., Favaloro, E.J. & Lloyd, J.V. (1996a) Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. British Journal of Haematology, 94, 400-406.
    • (1996) British of Journal of Haematology , vol.94 , pp. 400-406
    • Rudzki, Z.1    Duncan, E.M.2    Casey, G.J.3    Neuman, M.4    Favaloro, E.J.5    Lloyd, J.V.6
  • 10
    • 0029943237 scopus 로고    scopus 로고
    • Detection of carriers of haemophilia a: Use of bioassays and restriction fragment length polymorphisms (RFLP)
    • Rudzki, Z., Rodgers, S.E., Sheffield, L.J. & Lloyd, J.V. (1996b) Detection of carriers of haemophilia A: use of bioassays and restriction fragment length polymorphisms (RFLP). Australian and New Zealand Journal of Medicine, 26, 195-205.
    • (1996) Australian and New Zealand Journal of Medicine , vol.26 , pp. 195-205
    • Rudzki, Z.1    Rodgers, S.E.2    Sheffield, L.J.3    Lloyd, J.V.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.