Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.
Centro Hospitalar de Coimbra, EPE, Departamento de Hematologia, Av Bissaya Barreto, s/n, 3000-076 Coimbra, Portugal. lmanco@antrop.uc.pt
Licínio
L
Manco
Luís
L
Relvas
Umbelina
U
Rebelo
Julia
J
Vidán
M Letícia
ML
Ribeiro
D000483:Alleles; D001426:Bacterial Proteins / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism
D001426:Bacterial Proteins; D003062:Codon; D018388:Codon, Terminator; D012333:RNA, Messenger; D011770:Pyruvate Kinase