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.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague