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Article

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2005

Hill M, Deam S, Gordon B, Dolan G

Abstract excerpt

We report the results of genetic analysis on a series of 51 patients attending this Haemophilia Comprehensive Care Centre. The most common cause of severe haemophilia A--the factor VIII intron 22 inversion was detected in eight families and the factor VIII intron 1 inversion in three families. Mutation analysis was carried out on the remaining patients by nucleotide sequencing of genomic DNA after screening with...

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PMID: 15810915
DOI: 10.1111/j.1365-2516.2005.01069.x

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