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Article

Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study.

Journal of thrombosis and haemostasis : JTH - 1 Sept 2007

James P D, Notley C, Hegadorn C, Poon M-C, Walker I, Rapson D, Lillicrap D

Abstract excerpt

BACKGROUND/METHODS: In order to better characterize the genotype-phenotype correlation in type 2M von Willebrand disease (VWD), we sequenced the coding region for the mature subunit of the von Willebrand factor (VWF) gene (exons 18-52, including exon/intron boundaries) in 16 index cases originally submitted to the Canadian Type 1 VWD Study as type 1 VWD, but reclassified as type 2M VWD on the basis of phenotype...

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Identifiers

PMID: 17596142
DOI: 10.1111/j.1538-7836.2007.02666.x

Genes

VWF

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