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Volumn 4, Issue 4, 1998, Pages 346-349

The molecular basis of haemophilia A

Author keywords

Genetics; Haemophilia A; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 8;

EID: 0031876272     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.1998.440346.x     Document Type: Conference Paper
Times cited : (6)

References (21)
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  • 7
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    • Kemball Cook G, Tuddenham EGD. The factor VIII mutation database on the World Wide Web: The haemophilia A mutation, search, test and resource site - HAMSTers update (version 3.0). Nucl Acids Res 1997; 25: 128-32.
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  • 10
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    • A directed search for mutations in hemophilia a using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases
    • Lavergne JM, Bahnak BR, Vidaud M, Laurian Y, Meyer D. A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases Nouv Rev Fr Haematol 1992; 34: 85-91.
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    • Partial correction of a severe molecular defect in haemophilia A because of errors during expression of the factor VIII gene
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    • Young, M.1    Inaba, H.2    Meyer, L.W.3    Higuchi, M.4    Kazazian, H.H.5    Antonarakis, S.E.6
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    • Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
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    • (1988) Nature , vol.332 , pp. 164-166
    • Kazazian Jr., H.H.1    Wong, C.2    Youssoufian, H.3    Scott, A.F.4    Phillips, D.G.5    Antonarakis, S.E.6
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    • Naylor JA, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.