title: Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications.
authors.affiliation: Department of Haematology, Christian Medical College, Vellore, India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Athiyarath
authors.forename: Neeraj
authors.initials: N
authors.lastname: Arora
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuster
authors.forename: Robert
authors.initials: R
authors.lastname: Schwarzenbacher
authors.forename: Rayaz
authors.initials: R
authors.lastname: Ahmed
authors.forename: Biju
authors.initials: B
authors.lastname: George
authors.forename: Mammen
authors.initials: M
authors.lastname: Chandy
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.forename: Ana M
authors.initials: AM
authors.lastname: Rojas
authors.forename: Mayka
authors.initials: M
authors.lastname: Sanchez
authors.forename: Eunice S
authors.initials: ES
authors.lastname: Edison
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000747:Anemia, Hypochromic / Q000097:blood / Q000235:genetics* / Q000628:therapy; D015913:Chelation Therapy; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005260:Female; D005293:Ferritins / Q000097:blood; D006486:Hemosiderosis / Q000097:blood / Q000188:drug therapy / Q000209:etiology*; D064451:Hepcidins / Q000097:blood; D006801:Humans; D007501:Iron / Q000097:blood; D007502:Iron Chelating Agents / Q000627:therapeutic use; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D017354:Point Mutation; D011487:Protein Conformation; D014168:Transferrin / Q000737:chemistry / Q000235:genetics*; D065227:Transfusion Reaction
chemical_list: D064451:Hepcidins; D007502:Iron Chelating Agents; D014168:Transferrin; D005293:Ferritins; D007501:Iron
keywords: India; atransferrinaemia; hypochromic microcytic anaemia; missense mutations; transferrin