Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.
Manco
Licinio
L
Universidade de Coimbra, Departamento de Antropologia, Coimbra, Portugal. lmanco@antrop.uc.pt
Ribeiro
M Leticia
ML
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
D003062:Codon; D022821:RNA Splice Sites; D011770:Pyruvate Kinase