Conference
Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran
Abstract
Seventeen haemophilia B families from Iran were investigated to determine the causative mutation. All the essential regions of the F9 gene were initially screened by conformational sensitive gel electrophoresis and exons with band shift were sequenced. Seven of the 15 mutations identified in these families were novel mutations. The mutations were authenticated in nine families as other affected members or heterozygous female carriers were …
Authors
Enayat MS; Karimi M; Chana G; Farjadian S; Theophilus BDM; Hill FGH
Volume
10
Pagination
pp. 751-755
Publisher
Wiley
Publication Date
November 2004
DOI
10.1111/j.1365-2516.2004.01041.x
Conference proceedings
Haemophilia
Issue
6
ISSN
1351-8216
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
FemaleGenetic Carrier ScreeningHemophilia BHeterozygoteHumansIranMaleMutationPedigreeAgedAged, 80 and overAntifibrinolytic AgentsArthroplasty, ReplacementArthroplasty, Replacement, HipArthroplasty, Replacement, KneeFactor IXFactor VIIIHemophilia AHemorrhagePostoperative ComplicationsTreatment Outcome