Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

BACKGROUND: Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients, its correlation with phenotype has not been delineated. Here we aim to...

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Detalles Bibliográficos
Autores principales: He, Ruxuan, Mo, Ruo, Shen, Ming, Kang, Lulu, Song, Jinqing, Liu, Yi, Chen, Zhehui, Zhang, Hongwu, Yao, Hongxin, Liu, Yupeng, Zhang, Yao, Dong, Hui, Jin, Ying, Li, Mengqiu, Qin, Jiong, Zheng, Hong, Chen, Yongxing, Li, Dongxiao, Wei, Haiyan, Li, Xiyuan, Zhang, Huifeng, Huang, Min, Zhang, Chunyan, Jiang, Yuwu, Liang, Desheng, Tian, Yaping, Yang, Yanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398195/
https://www.ncbi.nlm.nih.gov/pubmed/32746869
http://dx.doi.org/10.1186/s13023-020-01485-7

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