Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.

Ritika SharmaManu JamwalHari Kishan SeneeNamrata SinghNarender KumarChander HansAnita KlerDeepak BansalAmita TrehanPankaj MalhotraJasmina AhluwaliaReena Das

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2022)

This is the largest cohort of FVII genotyping from India, confirming heterogeneity in terms of clinical manifestations, FVII activity and zygosity of the variants with a limited genotypic phenotypic correlation.

Keyphrases

single cell
high throughput
copy number
genome wide
tertiary care
single molecule
genetic diversity