title: Whole-exome sequencing confirmation of multiple MC1R variants associated with extensive freckles and red hair: Analysis of a Mongolian family.
authors.forename: Yuta
authors.initials: Y
authors.lastname: Araki
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan. Electronic address: k-okamura@med.id.yamagata-u.ac.jp.
authors.forename: Ken
authors.initials: K
authors.lastname: Okamura
authors.affiliation: Central Scientific Research Laboratory, Institute of Medical Sciences, Ulaanbaatar, Mongolia.
authors.forename: Batmunkh
authors.initials: B
authors.lastname: Munkhbat
authors.affiliation: Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Tamiya
authors.affiliation: Central Scientific Research Laboratory, Institute of Medical Sciences, Ulaanbaatar, Mongolia, Mongolia.
authors.forename: Bujin
authors.initials: B
authors.lastname: Erdene-Ochir
authors.affiliation: Central Scientific Research Laboratory, Institute of Medical Sciences, Ulaanbaatar, Mongolia, Mongolia.
authors.forename: Lkhasuren
authors.initials: L
authors.lastname: Nemekhbaatar
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Hozumi
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
mesh_terms: D000293:Adolescent; D054366:Agouti Signaling Protein / Q000378:metabolism; D000465:Algorithms; D000242:Cyclic AMP / Q000378:metabolism; D059472:Exome; D005192:Family Health; D005260:Female; D006200:Hair Color / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008548:Melanosis / Q000235:genetics*; D008875:Middle Aged; D008986:Mongolia; D010641:Phenotype; D010802:Phylogeny; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: C515182:ASIP protein, human; D054366:Agouti Signaling Protein; D044102:Receptor, Melanocortin, Type 1; D000242:Cyclic AMP