Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes

Blood Cells, Molecules, and Diseases

Volumn 55, Issue 1, 2015, Pages 71-75

  Radio, Francesca Clementina ^a   Majore, Silvia ^a   Aurizi, Caterina ^b   Sorge, Fiammetta ^b   Biolcati, Gianfranco ^b   Bernabini, Sara ^c   Giotti, Irene ^c   Torricelli, Francesca ^c   Giannarelli, Diana ^d   De Bernardo, Carmelilia ^a   Grammatico, Paola ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^c CAREGGI UNIVERSITY HOSPITAL   (Italy)

^d REGINA ELENA NATIONAL CANCER INSTITUTE   (Italy)

Author keywords

BMP2; FTL; HAMP; Hereditary hemochromatosis; Iron overload; P.Cys282Tyr; Penetrance defect; SLC40A1; TFR2; TMPRSS6

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; FERRITIN; HFE PROTEIN; IRON; TRANSFERRIN; APOFERRITIN; BMP2 PROTEIN, HUMAN; CATION TRANSPORT PROTEIN; FTL PROTEIN, HUMAN; HAMP PROTEIN, HUMAN; HEPCIDIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; METAL TRANSPORTING PROTEIN 1; SERINE PROTEINASE; TFR2 PROTEIN, HUMAN; TMPRSS6 PROTEIN, HUMAN; TRANSFERRIN RECEPTOR;

ARTICLE; BMP2 GENE; FEMALE; FERRITIN BLOOD LEVEL; FTL GENE; GENE; GENE FREQUENCY; GENE FUNCTION; GENETIC ASSOCIATION; GENOTYPE; HAMP GENE; HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS TYPE 1; HFE GENE; HUMAN; IRON BLOOD LEVEL; ITALIAN (CITIZEN); MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SLC40A1 GENE; TFR2 GENE; TMPRSS6 GENE; TRANSFERRIN BLOOD LEVEL; ALLELE; BLOOD; GENETICS; GENOTYPE ENVIRONMENT INTERACTION; METABOLISM; PATHOLOGY; PENETRANCE;

ALLELES; APOFERRITINS; BONE MORPHOGENETIC PROTEIN 2; CATION TRANSPORT PROTEINS; FEMALE; FERRITINS; GENE FREQUENCY; GENE-ENVIRONMENT INTERACTION; GENOTYPE; HEMOCHROMATOSIS; HEPCIDINS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; MALE; MEMBRANE PROTEINS; PENETRANCE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TRANSFERRIN; SERINE ENDOPEPTIDASES; TRANSFERRIN;

EID: 84929161673     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2015.04.001     Document Type: Article

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