A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families.
Priyanka
P
Kasatkar
Kanjaksha
K
Ghosh
Shrimati
S
Shetty
D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D014842:von Willebrand Diseases / Q000208:ethnology / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor