Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency

摘要

Identification of mutation. , the family tree. , Sanger sequences for the proband (homozygote), mother/father (heterozygote), and unaffected control. , the results of Human Splicing Finder. Both prediction algorithms of the new acceptor site indicate the potential alteration of splicing