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Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions

Millar, David Stuart, Green, P. J., Zoll, B., Kakkar, V. V. and Cooper, David Neil 1991. Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions. Human Genetics 87 (1) , pp. 99-100.

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Abstract

CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. Carrier detection analysis was then performed by polymerase chain reaction/direct sequencing of the appropriate region of the gene in female relatives of the probands.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Nature Publishing Group
ISSN: 1434-5161
Last Modified: 16 Apr 2019 20:55
URI: http://orca.cf.ac.uk/id/eprint/62103

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