2013•CellOpen access

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

Christian Praetorius, Christine Grill, Simon Stacey, Alexander M. Metcalf, David U. Gorkin, Kathleen C. Robinson, Eric Van Otterloo, Reuben S.Q. Kim, Kristín Bergsteinsdóttir, Margret Helga Ogmundsdottir, Erna Magnúsdóttir, Pravin J. Mishra, Sean R. Davis, Theresa W. Guo, M. Raza Zaidi, Agnar Helgason, Martin Ingi Sigurdsson, Paul S. Meltzer, Glenn T Merlino, Valerie A. Petit, Lionel Larue, Stacie K. Loftus, David R. Adams, Ulduz Sobhiafshar, N. C. Tolga Emre, William J. Pavan, Robert A. Cornell, Aaron G. Smith, Andrew S. McCallion, David E. Fisher, Kāri Stefánsson, Richard A. Sturm, Eirı́kur Steingrı́msson

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Key concepts: Biology, Microphthalmia-associated transcription factor, IRF4, Tyrosinase, Genetics, Polymorphism (computer science), Allele, Genotype