A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype

Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine. Isolated methylmalonic acidemia is one of the most common types of MMA and is caused by mutations in the gene encoding methyl-malonyl...

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Autors principals: Xinjie Zhang, Xiaowei Xu, Jianbo Shu, Xiufang Zhi, Hong Wang, Yan Dong, Wenchao Sheng, Dong Li, Yingtao Meng, Chunquan Cai
Format: Article
Idioma:English
Publicat: Elsevier 2024-03-01
Col·lecció:Heliyon
Matèries:
Methylmalonic acidemia
MMUT gene
Variant
RNA splicing
RNA splice sites
Accés en línia:http://www.sciencedirect.com/science/article/pii/S2405844024029438

Internet

http://www.sciencedirect.com/science/article/pii/S2405844024029438

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