An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis.
Somerville
M J
MJ
Sprysak
K A
KA
Hicks
M
M
Elyas
B G
BG
Vicen-Wyhony
L
L
D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009679:Nuclear Family; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
C055927:endodeoxyribonuclease MseI; D015252:Deoxyribonucleases, Type II Site-Specific