Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site

Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3’ splice site, with different exonic mutations affecting exon 11 spl...

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Detalles Bibliográficos
Autores principales: Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933811/
https://www.ncbi.nlm.nih.gov/pubmed/29684050
http://dx.doi.org/10.1371/journal.pgen.1007360

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933811/
https://www.ncbi.nlm.nih.gov/pubmed/29684050
http://dx.doi.org/10.1371/journal.pgen.1007360

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