The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia

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, i...

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Опубликовано в: :Haemophilia
Главные авторы: Hamasaki-Katagiri, Nobuko, Lin, Brian C., Simon, Jonathan, Hunt, Ryan C., Schiller, Tal, Russek-Cohen, Estelle, Komar, Anton A., Bar, Haim, Kimchi-Sarfaty, Chava
Формат: Artigo
Язык:Inglês
Опубликовано: 2016
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5226872/
https://ncbi.nlm.nih.gov/pubmed/27933712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/hae.13107
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