Publication | Open Access

Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T→G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin

Developmental BiologyMendelian DisorderGenetic DisorderMedicineGeneticsPathologyTriple HeterozygosityMolecular GeneticsDisease Gene IdentificationIndian OriginSix Novel MutationsMonogenic DisordersClinical Genetics