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Whole-exome sequencing confirmation of multiple MC1R variants associated with extensive freckles and red hair: Analysis of a Mongolian family.

作者信息

Araki Yuta, Okamura Ken, Munkhbat Batmunkh, Tamiya Gen, Erdene-Ochir Bujin, Nemekhbaatar Lkhasuren, Hozumi Yutaka, Suzuki Tamio

机构信息

Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.

Central Scientific Research Laboratory, Institute of Medical Sciences, Ulaanbaatar, Mongolia.

出版信息

J Dermatol Sci. 2016 Nov;84(2):216-219. doi: 10.1016/j.jdermsci.2016.08.009. Epub 2016 Aug 16.

DOI:10.1016/j.jdermsci.2016.08.009
PMID:27554336
Abstract
摘要

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A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.猩红之探:MC1R 作为红发的主要预测因子和跷跷板效应的典范。
Hum Mol Genet. 2019 Jun 15;28(12):2093-2106. doi: 10.1093/hmg/ddz018.