Yoko Nakajima Judith Meijer Chunhua Zhang Xu Wang Tomomi Kondo Tetsuya Ito Doreen Dobritzsch André B P Van Kuilenburg
10.3390/ijms17010086
Int J Mol Sci
2016 Jan 12;17(1):86.
dpys dihydropyrimidinase minigene splicing
CC BY
https://pubmed.ncbi.nlm.nih.gov/26771602/
Alternative Splicing Amidohydrolases / chemistry Metabolism, Inborn Errors / genetics Mutation RNA Precursors / genetics
Alternative Splicing Amidohydrolases / chemistry Metabolism, Inborn Errors / genetics Mutation RNA Precursors / genetics Case Reports Amidohydrolases / genetics Amidohydrolases / metabolism Base Sequence Catalytic Domain Child Exons Female Gene Expression Genetic Vectors / chemistry Genetic Vectors / metabolism HEK293 Cells Heterozygote Humans Infant Introns Metabolism, Inborn Errors / enzymology Metabolism, Inborn Errors / pathology Models, Molecular Molecular Sequence Data Protein Structure, Secondary RNA Precursors / metabolism Recombinant Proteins / chemistry Recombinant Proteins / genetics Recombinant Proteins / metabolism Sequence Alignment RNA Precursors Recombinant Proteins Amidohydrolases dihydropyrimidinase Dihydropyrimidinase Deficiency
PMC4730329
26771602
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene
2016