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Article

Improved criterion-referenced assessment in indirect tracking of haemophilia A using a 0.23 cM-resolution dense polymorphic marker set.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2009

Machado F B, Duarte L P, Medina-Acosta E

Abstract excerpt

In haemophilia A, linkage analysis with coagulation factor VIII (F8) intragenic and/or neighbouring extragenic short tandem repeats (STRs) enables indirect tracking F8 pathogenic allelic variant-carriers. Even where DNA sequencing is available, linkage analysis still has a role if no causative or candidate mutation is unveiled. The cumulative heterozygosity rate of the available multiplexed STRs haplotyping...

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Identifiers

PMID: 19624762
DOI: 10.1111/j.1365-2516.2009.02056.x

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