title: Gene symbol: ALAS2. Disease: sideroblastic anaemia.
authors.affiliation: Unidade de Hematologia Molecular, Serviço de Hematologia, Centro Hospitalar de Coimbra, Portugal. uhm@hpc.chc.min-saude.pt
authors.forename: P
authors.initials: P
authors.lastname: Gonçalves
authors.forename: J C
authors.initials: JC
authors.lastname: Pereira
authors.forename: M L
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000235:genetics*; D018389:Codon, Nonsense; D005192:Family Health; D005260:Female; D006801:Humans; D020125:Mutation, Missense
chemical_list: D018389:Codon, Nonsense; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human