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: Licínio
authors.initials: L
authors.lastname: Manco
authors.forename: M J
authors.initials: MJ
authors.lastname: Trovoada
authors.forename: M Letícia
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D019943:Amino Acid Substitution; D001266:Atlantic Islands; D003062:Codon / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D003062:Codon; D011770:Pyruvate Kinase