CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

Haematologica

Volumn 97, Issue 12, 2012, Pages 1818-1825

  Pelucchi, Sara ^a   Mariani, Raffaella ^a   Calza, Stefano ^c,d   Fracanzani, Anna Ludovica ^e   Modignani, Giulia Litta ^a   Bertola, Francesca ^f   Busti, Fabiana ^g   Trombini, Paola ^b   Fraquelli, Mirella ^e   Forni, Gian Luca ^h   Girelli, Domenico ^g   Fargion, Silvia ^e   Specchia, Claudia ^c   Piperno, Alberto ^a,b,f  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UNIVERSITY OF MILAN   (Italy)

^f Consortium for Human Molecular Genetics ^*  (Italy)

^g UNIVERSITY OF VERONA   (Italy)

^h GALLIERA HOSPITAL   (Italy)

Author keywords

Ferritin; Gene; Hemochromatosis; Iron; SNP; Transferrin saturation

Indexed keywords

HFE PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CANDIDATE GENE; CHILD; CONTROLLED STUDY; CYBRD1 GENE; DISEASE ASSOCIATION; DNA EXTRACTION; FEMALE; FERRITIN BLOOD LEVEL; GENE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON METABOLISM; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; MODIFIER GENE; PHENOTYPE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSFERRIN BLOOD LEVEL;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CHILD; CYTOCHROME B GROUP; FEMALE; FERRITINS; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; OXIDOREDUCTASES; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; TRANSFERRIN; YOUNG ADULT;

EID: 84870445696     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.062661     Document Type: Article

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