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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...
Gorde:
| Argitaratua izan da: | Int J Mol Sci |
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| Egile Nagusiak: | , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI
2016
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| Gaiak: | |
| Sarrera elektronikoa: | 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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