The rapid discovery of several iron-related genes in the last 10 years has led to the development of cost-effective genetic assays for early diagnosis of hereditary haemochromatosis (HH). A genetic predisposition for this relatively common autosomal recessive disease has been identified in ...
We report the coexistence of Wilson's disease and genetic haemochromatosis in one family. The diagnosis of genetic haemochromatosis was established in a 52-year-old man. Among his siblings, one 57-year-old sister and one 55-year-old brother had decreased copper and ceruloplasmin levels in se...
mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testingthapsigarginsignal transductionfMLFCaThe European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News ...
A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997;41:841-4.The UK Haemochromatosis Consortium, Worwood M. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997;41:841-4....
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Genetic haemochromatosis 喜欢 0 阅读量: 10 作者: B Hill 摘要: In the latest instalment in his case study series, Barry Hill examines the diagnosis of genetic haemochromatosis, an iron overload disorder DOI: 10.12968/indn.2010.20.9.78445 年份: 2010 ...
In a study investigating the use of genetic tests results in motivating smoking cessation in the community, 45% of low-income African-Americans did not understand their test results [20]. A research project on patients' experiences of testing for predisposition to haemochromatosis (iron overload)...
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The research analyzed data from more than 450,000 European Ancestry participants in UK Biobank, over a 13-year follow-up, making it the largest-scale study to look at disease outcomes linked to hemochromatosis. The paper is entitled "HFE genotypes, haemochromatosis diagnosis and clinical outcomes...