Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
نویسندگان
چکیده
منابع مشابه
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.
The human melanocortin-1 receptor (MC1R) is a G-protein coupled receptor involved in the regulation of pigmentation. Several MC1R variant alleles are associated with red hair, fair skin and increased skin cancer risk. We have performed a systematic functional analysis of nine common MC1R variants and correlated these results with the strength of the genetic association of each variant allele wi...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2007
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddm268