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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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Ferrata Storti Foundation
2011-04-01
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| Serie: | Haematologica |
| Accesso online: | https://haematologica.org/article/view/5928 |
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