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The biochemical characterization of a missense mutation m.8914C > T in ATP6 gene associated with mitochondrial encephalomyopathy.

08:00 EDT 28th September 2018 | BioPortfolio

Summary of "The biochemical characterization of a missense mutation m.8914C > T in ATP6 gene associated with mitochondrial encephalomyopathy."

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Name: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
ISSN: 1873-474X
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Medical and Biotech [MESH] Definitions

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).

A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.

The use of techniques that produce a functional MUTATION or an effect on GENE EXPRESSION of a specific gene of interest in order to identify the role or activity of the gene product of that gene.

A mutation that causes a decrease in or elimination of a gene product's activity.

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