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Article

Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension.

Electrophoresis - 1 Dec 2008

Mengel-From Jonas, Børsting Claus, Sanchez Juan J, Eiberg Hans, Morling Niels

Abstract excerpt

The MC1R gene encodes a protein with key regulatory functions in the melanin synthesis. A multiplex PCR and a multiplex single base extension protocol were established for genotyping six exonic MC1R variations highly penetrant for red hair (R), four exonic MC1R variations weakly penetrant for red hair (r), two frameshift variations highly penetrant for red hair (R) and three variations in the promoter region. We...

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Identifiers

PMID: 19016241
DOI: 10.1002/elps.200800107

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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