title: New TFR2 mutations in young Italian patients with hemochromatosis.
abstract: This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Biasiotto
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
authors.forename: Gian Luca
authors.initials: GL
authors.lastname: Forni
authors.forename: Anna
authors.initials: A
authors.lastname: Polotti
authors.forename: Gabriella
authors.initials: G
authors.lastname: Zecchina
authors.forename: Paolo
authors.initials: P
authors.lastname: Arosio
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012326:RNA Splicing / Q000235:genetics*; D011990:Receptors, Transferrin / Q000235:genetics*
chemical_list: D011990:Receptors, Transferrin; C503640:TFR2 protein, human