Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.
Manco
Licínio
L
Universidade de Coimbra, Departamento de Antropologia, Coimbra, Portugal. lmanco@antrop.uc.pt
Trovoada
M J
MJ
Ribeiro
M Letícia
ML
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*
D003062:Codon; D011770:Pyruvate Kinase