Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria

BACKGROUND: Hereditary orotic aciduria (HOA) is a rare genetic disorder of pyrimidine metabolism caused by variations in the uridine monophosphate synthetase (UMPS) gene and inheritance are autosomal recessive. Heterozygous UMPS mutations can also lead to orotic aciduria without clinical consequence...

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Detalles Bibliográficos
Autores principales: Ma, Rui, Ye, Jing, Han, Jiaqi, Gao, Lehong, Wang, Chaodong, Wang, Yuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959382/
https://www.ncbi.nlm.nih.gov/pubmed/35356460
http://dx.doi.org/10.3389/fneur.2022.819116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959382/
https://www.ncbi.nlm.nih.gov/pubmed/35356460
http://dx.doi.org/10.3389/fneur.2022.819116

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