title: Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.
authors: Department of Clinical Chemistry and Haematology, Breda, the Netherlands. avangammeren@amphia.nl.
authors: Adriaan
authors: A
authors: van Gammeren
authors: Department of Clinical Chemistry and Haematology, Breda, the Netherlands.
authors: Ellen
authors: E
authors: de Baar
authors: Department of Clinical Chemistry and Haematology, Breda, the Netherlands.
authors: Lianne
authors: L
authors: Schrauwen
authors: Department of Internal Medicine, Amphia Hospital, Breda, the Netherlands.
authors: Peter
authors: P
authors: van Wijngaarden
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000737:chemistry / Q000235:genetics*; D006358:Hot Temperature; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D009691:Nucleic Acid Denaturation; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D017510:Protein Folding; D017422:Sequence Analysis, DNA; D013329:Structure-Activity Relationship
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins
keywords: Q283P mutation; haemochromatosis; haemochromatosis gene; iron overload