Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population [4]

Journal of Thrombosis and Haemostasis

Volumn 2, Issue 8, 2004, Pages 1481-1482

  Ghosh, Kanjaksha ^a   Shetty, S ^a   Mohanty, D ^a  

^a KEM HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ANTIGEN DETECTION; CHROMOSOME INVERSION; DISEASE SEVERITY; GENE MUTATION; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMAN; IMMUNOASSAY; INDIAN; INTRON; LETTER; PHENOTYPE; PRIORITY JOURNAL;

COHORT STUDIES; FACTOR VIII; GENE FREQUENCY; HEMOPHILIA A; HUMANS; INDIA; INTRONS; INVERSION, CHROMOSOME; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 13244256856     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00794.x     Document Type: Letter

References (5)

1. Cumming AM. The factor VIII gene intron 1 inversion mutation: prevalence in severe haemophilia A patients in the UK. J Thromb Haemost 2004; 2: 205-6.
2. Shetty S, Ghosh K, Mohanty D. Major disorganization of factor VIII gene as a cause of severe haemophilia A in Indian patients. Am J Haematol 2004 (in press).
3. Ahmed R, Kannan M, Choudhry VP, Saxena R. Mutation reports: intron 1 and 22 inversions in Indian haemophiliacs. Ann Haematol 2003; 82: 546-7.
4. Acquila M, Pasino M, Santoro C, Lanza T, Molinari AC, Bottini F, Bicocchi MP. Germ-line origin of intron 1 inversion in two haemophilia A families. Haemophilia 2003; 9: 717-20.
5. Shetty S, Ghosh K, Bhide A, Mohanty D. Carrier detection and prenatal. diagnosis in families with haemophilia. Nat Med J Ind 2001; 14: 81-3.