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Article

A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation.

British journal of haematology - 1 Nov 1997

Merryweather-Clarke A T, Liu Y T, Shearman J D, Pointon J J, Robson K J

Abstract excerpt

We describe the rapid single-step detection, by mutagenically separated polymerase chain reaction (MS-PCR), of the HLE C282Y mutation, for which > 90% of haemochromatosis patients in the U.K. are homozygous. In addition to using purified DNA as a template, whole blood and lysed buccal cell extracts from mouthwash samples can be used. Therefore sample collection may be non-invasive and purification steps kept to a...

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PMID: 9375773
DOI: 10.1046/j.1365-2141.1997.4193224.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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