A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report

• Autors principals: Malihe Mirzaei (Autor), Arghavan Kavosi (Autor), Mahboobeh Sharifzadeh (Autor), Ghazale Mahjoub (Autor), Mohammad Ali Faghihi (Autor), Parham Habibzadeh (Autor), Majid Yavarian (Autor)
• Format: Llibre
• Publicat: BMC, 2020-06-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract 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 da...