A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

BACKGROUND: Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be a rare type,...

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Detalles Bibliográficos
Autores principales: Liang, Lili, Shuai, Ruixue, Yu, Yue, Qiu, Wenjuan, Shen, Linghua, Wu, Shengnan, Wei, Haiyan, Chen, Yongxing, Yang, Chiju, Xu, Peng, Chen, Xigui, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Ye, Jun, Zhang, Huiwen, Lu, Deyun, Gong, Zhuwen, Zhan, Xia, Ji, Wenjun, Yu, Yongguo, Gu, Xuefan, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792044/
https://www.ncbi.nlm.nih.gov/pubmed/33413471
http://dx.doi.org/10.1186/s13023-020-01632-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792044/
https://www.ncbi.nlm.nih.gov/pubmed/33413471
http://dx.doi.org/10.1186/s13023-020-01632-0

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