title: An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis.
authors.forename: M J
authors.initials: MJ
authors.lastname: Somerville
authors.forename: K A
authors.initials: KA
authors.lastname: Sprysak
authors.forename: M
authors.initials: M
authors.lastname: Hicks
authors.forename: B G
authors.initials: BG
authors.lastname: Elyas
authors.forename: L
authors.initials: L
authors.lastname: Vicen-Wyhony
mesh_terms: 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*
chemical_list: C055927:endodeoxyribonuclease MseI; D015252:Deoxyribonucleases, Type II Site-Specific