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. 1991 May;87(1):99-100.
doi: 10.1007/BF01213104.

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

D S Millar  1 , P J Green, B Zoll, V V Kakkar, D N Cooper
Affiliations

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

D S Millar et al. Hum Genet. 1991 May.

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.

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References

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