Non-classical hereditary hemochromatosis in Portugal: Novel mutations identified in iron metabolism-related genes

Annals of Hematology

Volumn 88, Issue 3, 2009, Pages 229-234

  Mendes, Ana Isabel ^a   Ferro, Ana ^a   Martins, Rute ^a   Picanço, Isabel ^a   Gomes, Susana ^a   Cerqueira, Rute ^b   Correia, Manuel ^b   Nunes, António Robalo ^c   Esteves, Jorge ^d   Fleming, Rita ^e   Faustino, Paula ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b Santa Maria da Feira Hospital   (Portugal)

^c Pulido Valente Hospital   (Portugal)

^d Sao Jose Hospital   (Portugal)

^e HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

Hereditary hemochromatosis; HFE; Non C282Y; Population screening

Indexed keywords

HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; TRANSFERRIN RECEPTOR 2;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IRON METABOLISM; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PORTUGAL; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; FEMALE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON METABOLISM DISORDERS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PORTUGAL; RECEPTORS, TRANSFERRIN; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 59049083735     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-008-0572-y     Document Type: Article

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