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.
Kinkely
S M
SM
Brown
B D
BD
Lyng
A T
AT
Harrison
W K
WK
Schep
G N
GN
Goddard-Hill
A C
AC
Aubrey
M E
ME
Lillicrap
D
D
Taylor
S A M
SA
D000328:Adult; D001483:Base Sequence / Q000235:genetics; D005091:Exons; D005260:Female; D017353:Gene Deletion; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins