Article
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2014
Guo Z-P, Yang L-H, Qin X-Y, Liu X-E, Chen J-F, Zhang Y-F
Abstract excerpt
Molecular characterization of haemophilia B (HB) at the factor IX gene (F9) is essential to establish diagnosis, confirm genotype-phenotype correlations and to advise in genetic counselling. This study aimed to identify the causative mutations in 21 Chinese families with HB and to analyse the association of these mutations with clinical phenotype. Phenotypic analyses were performed using one-stage assay for...
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