Gene Frequencies of Methylmalonic Acidemia Disease at the Global Level and Compiling the Pathogenic Mutations in the Iranian Population
Background: Methylmalonic acidemia (MMA) is a rare autosomal recessive metabolic disorder resulting from a genetic defect in methylmalonyl-CoA mutase (MCM) or a defect in the biosynthesis of its cofactor, adenosyl-cobalamin (AdoCbl). The disease is caused by a mutation in six main genes (MUT, MMAA,...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Mazandaran University of Medical Sciences and Health Services
2023-02-01
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| Series: | Research in Molecular Medicine |
| Subjects: | |
| Online Access: | http://rmm.mazums.ac.ir/article-1-489-en.pdf |
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