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A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.

Abstract:

On admission to hospital Caucasian 61 year old male with jaundice was found to have unexplained increased serum iron indices. He had bilateral peripheral arthritis. On further investigation he had grade II hepatocellular iron staining and a hepatic index of 5.4 leading to a diagnosis of hereditary hemochromatosis. He lacked the common C282Y HFE mutation. We sequenced the complete HFE gene and found that he was heterozygous for a novel single nucleotide deletion (c.del478) in exon 3 of HFE. He...

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Publication status:
Published

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Publisher copy:
10.1016/j.bcmd.2009.04.007

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Journal:
Blood cells, molecules and diseases
Volume:
43
Issue:
2
Pages:
194-198
Publication date:
2009-01-01
DOI:
EISSN:
1096-0961
ISSN:
1079-9796
URN:
uuid:046265f3-2f7c-4948-9773-15db0fea4579
Source identifiers:
230567
Local pid:
pubs:230567

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