Article
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.
International journal of molecular sciences - 12 Jan 2016
Nakajima Yoko, Meijer Judith, Zhang Chunhua, Wang Xu, Kondo Tomomi, Ito Tetsuya, Dobritzsch Doreen, Van Kuilenburg André B P
Abstract excerpt
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 splicing is hampered by the fact that DHP is primarily expressed in liver and kidney cells. The minigene approach can...
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