Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits

We have compared the melanogenic activities of cultured melanocytes carrying two common TYR alleles as homozygous 192S-402R wildtype, heterozygous and homozygous variant. This includes assays of TYR protein, DOPAoxidase activity, glycosylation and temperature sensitivity of protein and DOPAoxidase l...

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Hauptverfasser: Jagirdar, Kasturee, Smit, Darren J., Ainger, Stephen A., Lee, Katie J., Brown, Darren L., Chapman, Brett, Zhao, Zhen Zhen, Montgomery, Grant W., Martin, Nicholas G., Stow, Jennifer L., Duffy, David L., Sturm, Richard A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4119297/
https://ncbi.nlm.nih.gov/pubmed/24739399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pcmr.12253
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