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A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report
BACKGROUND: Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, thus pathogenic mutations in this gene can cause DHP deficiency. To date, seve...
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| Foilsithe in: | BMC Med Genet |
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| Main Authors: | , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BioMed Central
2020
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7325154/ https://ncbi.nlm.nih.gov/pubmed/32600357 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01070-6 |
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