Absence of overt iron overload in two individuals compound heteroxzygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene [2]

Clinical Genetics

Volumn 63, Issue 2, 2003, Pages 163-165

  Kinkely, S M ^b   Brown, B D ^b   Lyng, A T ^b   Harrison, W K ^b   Schep, G N ^b   Goddard Hill, A C ^b   Aubrey, M E ^b   Lillicrap, D ^b   Taylor, S A M ^a  

^a QUEEN S UNIVERSITY   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FERRITIN; HFE PROTEIN; SIGNAL PEPTIDE; TYROSINE;

ADULT; BASE PAIRING; CASE REPORT; CLINICAL FEATURE; EXON; FAMILY STUDY; FEMALE; FERRITIN BLOOD LEVEL; GENE DELETION; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; IRON OVERLOAD; LETTER; LIVER BIOPSY; MALE; MISSENSE MUTATION; PHLEBOTOMY; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; EXONS; FEMALE; GENE DELETION; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; MEMBRANE PROTEINS; MUTATION, MISSENSE;

EID: 0042131889     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00028.x     Document Type: Letter

References (11)

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