Mutation reports: Intron 1 and 22 inversions in Indian haemophilics
- 22 July 2003
- journal article
- research article
- Published by Springer Nature in Annals of Hematology
- Vol. 82 (9) , 546-547
- https://doi.org/10.1007/s00277-003-0704-3
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.Keywords
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