Gene symbol: ALAS2. Disease: sideroblastic anaemia.
Pereira
J C
JC
Unidade de Hematologia Molecular, Serviço de Hematologia, Centro Hospitalar de Coimbra, Portugal. uhm@hpc.chc.min-saude.pt
Gutiérrez
E O
EO
Ribeiro
M L
ML
D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D020125:Mutation, Missense
D018389:Codon, Nonsense; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human