Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

Background Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6.D...

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主要な著者:	Patricia Aguilar-Martinez, Bernard Grandchamp, Séverine Cunat, Estelle Cadet, François Blanc, Marlène Nourrit, Kaiss Lassoued, Jean-François Schved, Jacques Rochette
フォーマット:	Artigo
言語:	Inglês
出版事項:	Ferrata Storti Foundation 2011-04-01
シリーズ:	Haematologica
オンライン･アクセス:	https://haematologica.org/article/view/5928
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