Genetic testing for haemochromatosis in patients with chondrocalcinosis.
Hereditary haemochromatosis (HH) is the most common lethal monogenic human disease, affecting roughly 1 in 300 white northern Europeans. Homozygosity for the C282Y polymorphism within the HFE gene causes more than 80% of cases, with compound heterozygosity of the C282Y and H63D polymorphism also inc...
主要な著者: | , , , , , |
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フォーマット: | Journal article |
言語: | English |
出版事項: |
2002
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