Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

Changes at the invariable donor splice site + 1 guanine, relatively frequent in human genetic disease, are predicted to abrogate correct splicing, and thus are classified as null mutations. However, their ability to direct residual expression, which might have pathophysiological implications in seve...

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Detalles Bibliográficos
Autores principales: Cavallari, Nicola, Balestra, Dario, Branchini, Alessio, Maestri, Iva, Chuamsunrit, Ampaiwan, Sasanakul, Werasak, Mariani, Guglielmo, Pagani, Franco, Bernardi, Francesco, Pinotti, Mirko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Pub. Co 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787739/
https://www.ncbi.nlm.nih.gov/pubmed/22426302
http://dx.doi.org/10.1016/j.bbadis.2012.03.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787739/
https://www.ncbi.nlm.nih.gov/pubmed/22426302
http://dx.doi.org/10.1016/j.bbadis.2012.03.001

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