Article
Molecular defects in the factor X gene caused by novel heterozygous mutations IVS5+1G>A and Asp409del.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2013
Zhou J W, Liang Q, Chen Q, Xie Y, Ding Q L, Wang X F, Xi X D, Wang H L
Abstract excerpt
Factor X (FX) deficiency is a rare autosomal-recessive bleeding disorder caused by diverse mutations in the F10 gene. To investigate the molecular basis of severe FX deficiency in a mildly hemorrhagic patient, variants of the F10 gene were detected by sequencing. A missense mutation was analysed by in vitro expression and modelling analysis, and a splice mutation using ectopic transcript analysis. The levels of...
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