Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B

• Published in: Haemophilia : the official journal of the World Federation of Hemophilia Vol. 14; no. 5; pp. 1069 - 1075
• Main Authors: KWON, M.-J., YOO, K.-Y., KIM, H.-J., KIM, S.-H.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.09.2008
• Subjects: DNA Mutational Analysis - methods; Exons - genetics; Factor IX - genetics; Factor IX - metabolism; Feasibility Studies; Genotype; genotype-phenotype correlations; haemophilia B; Hemophilia B - blood; Hemophilia B - genetics; Humans; Korea; Male; MLPA; multiplex ligation-dependent probe amplification; Mutation; Nucleic Acid Amplification Techniques - methods; Phenotype; Polymerase Chain Reaction - methods; Sequence Deletion

Haemophilia B (HB) is a rare X‐linked recessive bleeding disorder caused by a mutation in the F9 gene. The aims of this study were to characterize the mutation spectrum of F9 in Korean patients with HB to establish the optimal molecular diagnostic strategy and to find genotype–phenotype correlations...