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PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.
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PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis. 2011 Apr; 34(2):443-7.
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subject areas
Carnitine O-Palmitoyltransferase
Child, Preschool
Codon
Codon, Nonsense
Fatty Acids
Female
Fibroblasts
Gentamicins
Homozygote
Humans
Hyperammonemia
Hypoglycemia
Ketones
Liver Diseases
Mutation
Oxadiazoles
Oxygen
Phenotype
Skin
authors with profiles
Michael Jay Bennett, M.D.