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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Publicado en:BMC Med Genet
Main Authors: Mirzaei, Malihe, Kavosi, Arghavan, Sharifzadeh, Mahboobeh, Mahjoub, Ghazale, Faghihi, Mohammad Ali, Habibzadeh, Parham, Yavarian, Majid
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
Assuntos:
Case Report
Acceso en liña: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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