Search Results - p.r106c

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Mmut P.R106C/P.R106C Knock-In Methylmalonyl-CoA Mutase (Mmut) Allele mouse models for the Study of Methylmalonic Acidemia (MMA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of the Mmut allele - p.R106C. This allele recapitulates a missense mutation...
Published: 10/28/2024   |   Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti
Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, MutaseMmut, P.R106C, P.R106C/, VPXXXX, WIXXXX, XEXXXX
Category(s): TherapeuticArea > Ophthalmology, Application > Therapeutics, Application > Research Materials, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Endocrinology, TherapeuticArea > Dental