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Volumn 82, Issue 9, 2003, Pages 546-547

Mutation reports: Intron 1 and 22 inversions in Indian haemophilics

Author keywords

Haemophilia A; Intron 1 inversion; Intron 22 inversion; Long PCR

Indexed keywords

ARTICLE; CHROMOSOME INVERSION; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; GENETIC SCREENING; HEMOPHILIA A; HUMAN; INDIA; INTRON; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0141505910     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-003-0704-3     Document Type: Article
Times cited : (24)

References (6)
  • 2
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
    • 15
    • Liu Q, Nozari G, Sommer SS (1998) Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 15;92(4):1458-1459
    • (1998) Blood , vol.92 , Issue.4 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 3
    • 0029830215 scopus 로고    scopus 로고
    • Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia
    • Brinke A, Tagliavacca L, Naylor J, Green P, Giangrande P, Giannelli F (1996) Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia. Hum Mol Genet 5(12):1945-1951
    • (1996) Hum. Mol. Genet. , vol.5 , Issue.12 , pp. 1945-1951
    • Brinke, A.1    Tagliavacca, L.2    Naylor, J.3    Green, P.4    Giangrande, P.5    Giannelli, F.6
  • 4
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • 1
    • Bagnall RD, Waseem N, Green PM, Giannelli F (2002) Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 1;99(1):168-174
    • (2002) Blood , vol.99 , Issue.1 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 6
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
    • Naylor J, Brinke A, Hassock S, Green PM, Giannelli F (1993) Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 2(11):1773-1778
    • (1993) Hum. Mol. Genet. , vol.2 , Issue.11 , pp. 1773-1778
    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.