Novel human pathological mutations. Gene symbol: SLC40A1. Disease: haemochromatosis, type 4.
Relvas
Luís
L
Hospital Pediátrico, Coimbra, Portugal.
Claro
Maria Teresa
MT
Bento
Maria Celeste
MC
Ribeiro
Maria Letícia
ML
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
D027682:Cation Transport Proteins; D003062:Codon; D014168:Transferrin; D000098742:Ferroportin; D005293:Ferritins