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Volumn 18, Issue 1, 2012, Pages 134-136

A homozygous female hemophilia A

Author keywords

Consanguinity; factor VIII; female hemophilia; India

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA;

EID: 84862568756     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.96685     Document Type: Article
Times cited : (7)

References (10)
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    • 84862533282 scopus 로고    scopus 로고
    • The Haemophilia A Mutation, Structure, Test and Resource Site. [Last accessed on 2012 Feb 15]
    • The Haemophilia A Mutation, Structure, Test and Resource Site. Available from: http://hadb.org.uk. [Last accessed on 2012 Feb 15].
  • 3
    • 77958122147 scopus 로고    scopus 로고
    • Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser
    • Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, et al. Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser. Thromb Haemost 2010;104:718-23
    • (2010) Thromb Haemost , vol.104 , pp. 718-23
    • Martín-Salces, M.1    Venceslá, A.2    Alvárez-Román, M.T.3    Rivas, I.4    Fernandez, I.5    Butta, N.6
  • 5
    • 51249090098 scopus 로고    scopus 로고
    • Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene
    • Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene. Haemophilia 2008;14:1094-8
    • (2008) Haemophilia , vol.14 , pp. 1094-8
    • Venceslá, A.1    Fuentes-Prior, P.2    Baena, M.3    Quintana, M.4    Baiget, M.5    Tizzano, E.F.6
  • 6
    • 33747180117 scopus 로고    scopus 로고
    • Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII
    • Cai XH, Wang XF, Dai J, Fang Y, Ding QL, Xie F, et al. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. J Thromb Haemost 2006;4:1969-74
    • (2006) J Thromb Haemost , vol.4 , pp. 1969-74
    • Cai, X.H.1    Wang, X.F.2    Dai, J.3    Fang, Y.4    Ding, Q.L.5    Xie, F.6
  • 7
    • 24644437294 scopus 로고    scopus 로고
    • Identification of factor VIII gene mutation in 101 patients with haemophilia A: Mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modeling of 10 novel missense substitutions
    • Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A. Identification of factor VIII gene mutation in 101 patients with haemophilia A: Mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modeling of 10 novel missense substitutions. Haemophilia 2005;11:481-91
    • (2005) Haemophilia , vol.11 , pp. 481-91
    • Jayandharan, G.1    Shaji, R.V.2    Baidya, S.3    Nair, S.C.4    Chandy, M.5    Srivastava, A.6
  • 8
    • 0036199856 scopus 로고    scopus 로고
    • An update on conformation sensitive gel electrophoresis
    • Ganguly A. An update on conformation sensitive gel electrophoresis. Hum Mutat 2002;19:334-42
    • (2002) Hum Mutat , vol.19 , pp. 334-42
    • Ganguly, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.