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Mutation reports: intron 1 and 22 inversions in Indian haemophilics.

Authors :
Ahmed R
Kannan M
Choudhry VP
Saxena R
Source :
Annals of hematology [Ann Hematol] 2003 Sep; Vol. 82 (9), pp. 546-7. Date of Electronic Publication: 2003 Jul 22.
Publication Year :
2003

Abstract

Intron 1 and 22 inversions were looked for in 80 severe haemophilia A patients in India using PCR and multiplex Long-Distance Subcycling-PCR, respectively. Intron 1 inversion was seen in 3 (3.75%) and intron 22 inversion was seen in 35 (43.75%) patients. Of severe haemophilics, 47.5% had either of these inversions. It is thus suggested that screening for inversions may be the first step in genetic testing of Indian haemophilics.

Details

Language :
English
ISSN :
0939-5555
Volume :
82
Issue :
9
Database :
MEDLINE
Journal :
Annals of hematology
Publication Type :
Academic Journal
Accession number :
12879284
Full Text :
https://doi.org/10.1007/s00277-003-0704-3