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A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

Sequence polymorphisms linked to human diseases and phenotypes in genome-wide association studies often affect non-coding regions. A single nucleotide polymorphism (SNP) within an intron of the gene encoding Interferon Regulatory Factor 4 (IRF4), a transcription factor with no known role in melanocy...

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Detalhes bibliográficos
Main Authors: Praetorius, Christian, Grill, Christine, Stacey, Simon N., Metcalf, Alexander M., Gorkin, David U., Robinson, Kathleen C., Van Otterloo, Eric, Kim, Reuben S.Q., Bergsteinsdottir, Kristin, Ogmundsdottir, Margret H., Magnusdottir, Erna, Mishra, Pravin J., Davis, Sean R., Guo, Theresa, Zaidi, M. Raza, Helgason, Agnar S., Sigurdsson, Martin I., Melzer, Paul S., Merlino, Glenn, Petit, Valerie, Larue, Lionel, Loftus, Stacie K., Adams, David R., Sobhiafshar, Ulduz, Emre, N. C. Tolga, Pavan, William J., Cornell, Robert, Smith, Aaron G., McCallion, Andrew S., Fisher, David E., Stefansson, Kari, Sturm, Richard A., Steingrímsson, Eiríkur
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873608/
https://ncbi.nlm.nih.gov/pubmed/24267888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2013.10.022
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