Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene

Dihydropyrimidinase (DHP) deficiency is an autosomal recessive disease caused by mutations in the DPYS gene. Patients present with highly elevated levels of dihydrouracil and dihydrothymine in their urine, blood and cerebrospinal fluid. The analysis of the effect of mutations in DPYS on pre-mRNA spl...

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Detalles Bibliográficos
Autores principales: Nakajima, Yoko, Meijer, Judith, Zhang, Chunhua, Wang, Xu, Kondo, Tomomi, Ito, Tetsuya, Dobritzsch, Doreen, Van Kuilenburg, André B. P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730329/
https://www.ncbi.nlm.nih.gov/pubmed/26771602
http://dx.doi.org/10.3390/ijms17010086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730329/
https://www.ncbi.nlm.nih.gov/pubmed/26771602
http://dx.doi.org/10.3390/ijms17010086

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