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Journal article

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Abstract:

Haemochromatosis is predominantly associated with the HFE p.C282Y homozygous genotype, which is present in approximately 1 in 200 people of Northern European origin. However, not all p.C282Y homozygotes develop clinical features of haemochromatosis, and not all p.C282Y homozygotes even present abnormal iron parameters justifying venesection therapy. This situation was not apparent from initial genotype/phenotype correlation studies as there was a selection bias of patients. Only those patient...

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Publication status:
Published

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Publisher copy:
10.1007/s00439-010-0852-1

Authors


Journal:
Human genetics
Volume:
128
Issue:
3
Pages:
233-248
Publication date:
2010-09-05
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
URN:
uuid:88f61a2b-4293-4310-b09b-b9d73d6cfee1
Source identifiers:
456152
Local pid:
pubs:456152

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