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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Bibliografiska uppgifter
I publikationen:Int J Mol Sci
Huvudupphovsmän: Nakajima, Yoko, Meijer, Judith, Zhang, Chunhua, Wang, Xu, Kondo, Tomomi, Ito, Tetsuya, Dobritzsch, Doreen, Van Kuilenburg, André B. P.
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2016
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4730329/
https://ncbi.nlm.nih.gov/pubmed/26771602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17010086
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