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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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| Publicado no: | Haemophilia |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | 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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