Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees
Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its functional analysis. Materials and Methods: Two p...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Royan Institute (ACECR), Tehran
2016-09-01
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| Series: | Cell Journal |
| Subjects: | |
| Online Access: | http://celljournal.org/web/journal/article/6119/download |