title: Novel human pathological mutations. Gene symbol: SLC40A1. Disease: haemochromatosis, type 4.
authors.affiliation: Hospital Pediátrico, Coimbra, Portugal.
authors.forename: Luís
authors.initials: L
authors.lastname: Relvas
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Claro
authors.forename: Maria Celeste
authors.initials: MC
authors.lastname: Bento
authors.forename: Maria Letícia
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D019943:Amino Acid Substitution; D000747:Anemia, Hypochromic / Q000097:blood / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000097:blood / Q000145:classification / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype; D014168:Transferrin / Q000378:metabolism; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D003062:Codon; D014168:Transferrin; D000098742:Ferroportin; D005293:Ferritins