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 ORCID: https://orcid.org/0000-0002-8943-8484 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:	06 May 2023 01:16
URI:	https://orca.cardiff.ac.uk/id/eprint/62103

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