Whole exome sequencing of Factor X Deficiency patients of Nepalese origin.
Whole exome sequencing was performed to identify mutations in patients with Factor X deficiency (FXD) of Nepalese origin. FXD is one of the rarest, autosomal recessive bleeding disorder, with reports of co-existence with other recessive rare bleeding disorders. This research will assist in genetic counselling to the family members and may also assist to correlate phenotype to the genotype.