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Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene
Author(s) -
S M Kinkely,
B D Brown,
A T Lyng,
W K Harrison,
G N Schep,
A C Goddard-Hill,
M E Aubrey,
D Lillicrap,
S A M Taylor
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00028.x
Subject(s) - missense mutation , exon , genetics , mutation , compound heterozygosity , gene , heterozygote advantage , biology , genotype