Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 37 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes;Molecular Genetics and Metabolism;2020-07
2. A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia;Journal of Inherited Metabolic Disease;2019-11-26
3. Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations;Molecular Biology Reports;2019-02
4. Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia;Indian Journal of Clinical Biochemistry;2016-08-04
5. Molecular Genetic Characterization of 151Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations inMUT;Human Mutation;2016-05-23
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