טוען...
Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?
Background: The majority of hereditary haemochromatosis (HH) patients are homozygous for the C282Y mutation in the HFE gene. We have demonstrated a homozygote frequency of 1 in 83 for the C282Y mutation in a retrospective analysis of Irish neonates. However, a fully developed phenotype is not observ...
שמור ב:
| Main Authors: | , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Copyright 2002 by Gut
2002
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1773286/ https://ncbi.nlm.nih.gov/pubmed/12077102 |
| תגים: |
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