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Article

A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation.

Blood cells, molecules & diseases - 1 Jun 2000

Beutler E, Gelbart T

Abstract excerpt

Amplification of the region of the HFE gene that contains the c.845G-->A (C282Y) mutation is usually performed using one amplimer that binds to a sequence in intron 3 and another that binds to a sequence in intron 4. Previously, a mutation that interferes with efficient binding to the intron 4 site has been described. We now find that another common mutation in intron 3, IVS3 -48c-->g, prevents binding of the...

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Source

Identifiers

PMID: 10950943
DOI: 10.1006/bcmd.2000.0300

Genes

HFE

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A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation.PMID 10950943Read ↗

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