Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
Newton, J.M., Cohen-Barak, Orit, Hagiwara, Nobuko, Gardner, John M., Davisson, Muriel T., King, Richard A., Brilliant, Murray H.·2001·The American Journal of Human Genetics
DOI 10.1086/324340
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- Polymorphisms detected in the tyrosinase and matp (slc45a2) genes did not explain coat colour dilution in a sample of Alpaca (Vicugna pacos)Rhys Cransberg, Kylie Munyard · 2010 · Small Ruminant Research
- Putative role of an SLC45 H+/sugar cotransporter in mammalian spermatozoaOlga Vitavska, Helmut Wieczorek · 2017 · Pflügers Archiv - European Journal of Physiology
- Nonhuman Primate Model of Oculocutaneous Albinism with TYR and OCA2 MutationsKun‐Chao Wu, Ji‐Neng Lv, Hui Yang, Fengmei Yang, Rui Lin, Qiang Lin, Ren‐Juan Shen, Junbin Wang, Wenhua Duan, Min Hu et al. · 2020 · Research
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- Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a modelAnke Reinders, John M. Ward · 2012 · Molecular Medicine Reports
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- Membrane Transporters and Channels in MelanomaInes Böhme, Roland Schönherr, Jürgen Eberle, Anja‐Katrin Bosserhoff · 2020 · Reviews of physiology, biochemistry and pharmacology