Factor VIII gene explains all cases of haemophilia A

Using an mRNA-based method to examine haemophilia A mutations we provide an explanation for the puzzling report that half of the mutations causing severe disease are not detected by analysis of the putative promoter, exons, and most exon/intron boundaries of the factor VIII gene. An unusual cluster...

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Bibliographic Details
Published in:The Lancet (British edition) 1992-10, Vol.340 (8827), p.1066-1067
Main Authors: Naylor, J.A., Green, P.M., Giannelli, F., Rizza, C.R.
Format: Article
Language:English
Subjects:
Boundaries
Electrophoresis, Agar Gel
Exons - genetics
Factor VIII - genetics
Genetics
Hemophilia
Hemophilia A - genetics
Humans
Introns - genetics
Medical research
Mutation
RNA, Messenger - genetics
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Summary:Using an mRNA-based method to examine haemophilia A mutations we provide an explanation for the puzzling report that half of the mutations causing severe disease are not detected by analysis of the putative promoter, exons, and most exon/intron boundaries of the factor VIII gene. An unusual cluster of mutations involving regions of intron 22 not examined earlier leads to defective joining of exons 22 and 23 in the mRNA and caused haemophilia A in 10/24 severely affected UK patients.
ISSN:0140-6736
1474-547X
DOI:10.1016/0140-6736(92)93080-7