title: Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.
authors.affiliation: Universidade de Coimbra, Departamento de Antropologia, Coimbra, Portugal. lmanco@antrop.uc.pt
authors.forename: Licinio
authors.initials: L
authors.lastname: Manco
authors.forename: M Leticia
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D016384:Consensus Sequence; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D022821:RNA Splice Sites
chemical_list: D003062:Codon; D022821:RNA Splice Sites; D011770:Pyruvate Kinase