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A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.
Mirzaei, Malihe; Kavosi, Arghavan; Sharifzadeh, Mahboobeh; Mahjoub, Ghazale; Faghihi, Mohammad Ali; Habibzadeh, Parham; Yavarian, Majid.
Afiliación
  • Mirzaei M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Postal Code: 7134767617, Iran.
  • Kavosi A; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Postal Code: 7134767617, Iran.
  • Sharifzadeh M; Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran.
  • Mahjoub G; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Postal Code: 7134767617, Iran.
  • Faghihi MA; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Postal Code: 7134767617, Iran.
  • Habibzadeh P; Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA.
  • Yavarian M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Postal Code: 7134767617, Iran.
BMC Med Genet ; 21(1): 138, 2020 06 29.
Article en En | MEDLINE | ID: mdl-32600357
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Amidohidrolasas / Errores Innatos del Metabolismo / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Irán
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Amidohidrolasas / Errores Innatos del Metabolismo / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Irán