PKLR Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the PKLR gene.

**Synonyms:** - PK1 Gene Mutation - PKL Gene Mutation - PKR Gene Mutation - PKRL Gene Mutation - Pyruvate Kinase L/R Gene Mutation - Pyruvate Kinase, Liver and RBC Gene Mutation - RPK Gene Mutation