Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

Forny, Patrick

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. [electronic resource] - The Journal of biological chemistry 09 2016 - 20563-73 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1083-351X

10.1074/jbc.M116.747717 doi


Amino Acid Metabolism, Inborn Errors--blood
Ammonia--metabolism
Animals
Biomarkers--blood
Brain--metabolism
Carnitine--analogs & derivatives
Dietary Proteins--adverse effects
Disease Models, Animal
Gene Dosage
Gene Knock-In Techniques
Kidney--metabolism
Methylmalonic Acid--blood
Methylmalonyl-CoA Mutase--genetics
Mice
Mice, Knockout
Phenotype
Quantitative Trait, Heritable