Article
The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2017
Hamasaki-Katagiri N, Lin B C, Simon J, Hunt R C, Schiller T, Russek-Cohen E, Komar A A, Bar H, Kimchi-Sarfaty C
Abstract excerpt
INTRODUCTION: Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia is associated with inversions, deletions, insertions, nonsense and missense mutations. Both synonymous and non-synonymous mutations influence the base pairing...
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