title: Novel human pathological mutations. Gene symbol: ALAS2. Disease: sideroblastic anaemia.
authors.affiliation: Hematologia, Centro Hospitalar Coimbra, EPE/Hospital Maria Pia, Coimbra, Portugal.
authors.forename: Janet Carvalho
authors.initials: JC
authors.lastname: Pereira
authors.forename: J
authors.initials: J
authors.lastname: Barbot
authors.forename: M L
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D018389:Codon, Nonsense; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009711:Nucleotides / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D009711:Nucleotides; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human