Priyanka Kasatkar and colleagues present a study of the analysis of the entire VWF coding region including intron-exon boundaries by DNA sequencing 100 unrelated severe von Willebrand disease (VWD) patients. They showed the utility of additional polymorphic markers with high heterozygosity frequencies for genetic diagnosis in type 3 VWD due to the complexity of the gene and heterogeneity of mutations.
Kasatkar, Priyanka et al. Indian Journal of Medical Research.
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JOHN GARCIA, Invitae
San Francisco, USA