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HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis

BACKGROUND—Previous studies have shown that up to 0.5% of the Caucasian population is homozygous for the HFE gene C282Y mutation. High prevalence values have been reported in Northern Europe. To what extent the presence of this mutation is associated with overt clinical haemochromatosis is unclear.
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詳細記述

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書誌詳細
主要な著者: Distante, S, Berg, J, Lande, K, Haug, E, Bell, H
フォーマット: Artigo
言語:Inglês
出版事項: 2000
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1728064/
https://ncbi.nlm.nih.gov/pubmed/10986220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/gut.47.4.575
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