Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families
- 1 February 1995
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 89 (2) , 409-412
- https://doi.org/10.1111/j.1365-2141.1995.tb03319.x
Abstract
Summary. Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mutation in 7 exons and 5’ and 3’ non-coding regions were positive.Keywords
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