| 1 | LRMDA, OCA1, OCA2, OCA3, OCA4, OCA6, OCA7, SLC24A5, SLC45A2, TYR, TYRP1
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| Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis
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| Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J, Chen J
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| Pigment Cell Melanoma Res. Sep;32(5):672-686. doi: 10.1111/pcmr.12790. Epub 2019 May 29 2019
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| 2 | OCA4, SLC45A2
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| Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.
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| Tóth L, Fábos B, Farkas K, Sulák A, Tripolszki K, Széll M, Nagy N.
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| BMC Med Genet 18(1):27. doi: 10.1186/s12881-017-0386-7.
2017
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| 3 | SLC45A2
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| Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin.
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| Kita R, Fraser HB.
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| PLoS Genet 12(10):e1006382. doi: 10.1371/journal.pgen.1006382. eCollection 2016 Oct.
2016
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| 4 | SLC45A2
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| Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.
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| Bin BH, Bhin J, Yang SH, Shin M, Nam YJ, Choi DH, Shin DW, Lee AY, Hwang D, Cho EG, Lee TR.
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| PLoS One 10(6):e0129273. doi: 10.1371/journal.pone.0129273. eCollection 2015.
2015
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| 5 | SLC45A1, SLC45A2, SLC45A3, SLC45A4
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| Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae.
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| Bartölke R, Heinisch JJ, Wieczorek H, Vitavska O.
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| Biochem J 464(2):193-201. doi: 10.1042/BJ20140572.
2014
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| 6 | SLC45A2
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| Association of melanogenesis genes with skin color variation among Japanese females.
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| Abe Y, Tamiya G, Nakamura T, Hozumi Y, Suzuki T.
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| J Dermatol Sci 69(2):167-72. doi: 10.1016/j.jdermsci.2012.10.016. Epub 2012 Oct 30.
2013
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| 7 | SLC45A2
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| A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene.
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| Ibarrola-Villava M, Fernandez LP, Alonso S, Boyano MD, Peńa-Chilet M, Pita G, Aviles JA, Mayor M, Gomez-Fernandez C, Casado B, Martin-Gonzalez M, Izagirre N, De la Rua C, Asumendi A, Perez-Yarza G, Arroyo-Berdugo Y, Boldo E, Lozoya R, Torrijos-Aguilar A, Pitarch A, Pitarch G, Sanchez-Motilla JM, Valcuende-Cavero F, Tomas-Cabedo G, Perez-Pastor G, Diaz-Perez JL, Gardeazabal J, Martinez de Lizarduy I, Sanchez-Diez A, Valdes C, Pizarro A, Casado M, Carretero G, Botella-Estrada R, Nagore E, Lazaro P, Lluch A, Benitez J, Martinez-Cadenas C, Ribas G.
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| PLoS One 6(4):e19271. doi: 10.1371/journal.pone.0019271.
2011
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| 8 | SLC45A2
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| Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
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| Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW.
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| J Invest Dermatol 130(2):520-8. doi: 10.1038/jid.2009.258. Epub 2009 Aug 27.
2010
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| 9 | OCA4, SLC45A2
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| Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.
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| Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T.
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| Am J Med Genet A 149A(8):1773-6.PMID: 19610114 2009
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| 10 | MC1R, SLC45A2
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| Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
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| Guedj M, Bourillon A, Combadičres C, Rodero M, Dieudé P, Descamps V, Dupin N, Wolkenstein P, Aegerter P, Lebbe C, Basset-Seguin N, Prum B, Saiag P, Grandchamp B, Soufir N; MelanCohort Investigators.
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| Hum Mutat 29(9):1154-60.
2008
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| 11 | SLC45A2
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| SLC45A2: a novel malignant melanoma-associated gene.
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| Fernandez LP, Milne RL, Pita G, Avilés JA, Lázaro P, Benítez J, Ribas G.
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| Hum Mutat 29(9):1161-7.
2008
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| 12 | SLC45A2
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| Association of the SLC45A2 gene with physiological human hair colour variation.
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| Branicki W, Brudnik U, Draus-Barini J, Kupiec T, Wojas-Pelc A.
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| J Hum Genet 53(11-12):966-71. Epub 2008 Sep 20.
2008
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| 13 | OCA4, SLC45A2
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| SLC45A2 variations in Indian oculocutaneous albinism patients.
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| Sengupta M, Chaki M, Arti N, Ray K.
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| Mol Vis 13:1406-11.
2007
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| 14 | SLC45A2
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| Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.
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| Graf J, Voisey J, Hughes I, van Daal A.
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| Hum Mutat 28(7):710-7.
2007
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| 15 | SLC45A2, OCA4
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| Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.
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| Graf J, Hodgson R, van Daal A.
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| Hum Mutat 25(3):278-84. 2005
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| 16 | OCA4, SLC45A2
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| Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
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| Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y.
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| Am J Hum Genet 74(3):466-71. Epub 2004 Feb 11. 2004
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| 17 | SLC45A2, OCA4
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| Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
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| Rundshagen U, Zuhlke C, Opitz S, Schwinger E, Kasmann-Kellner B.
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| Hum Mutat 23(2):106-10. 2004
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| 18 | SLC45A2, OCA4
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| Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
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| Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH.
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| Am J Hum Genet 69(5):981-8. 2001
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| 19 | SLC45A2
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| Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells.
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| Harada M, Li YF, El-Gamil M, Rosenberg SA, Robbins PF.
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| Cancer Res 61(3):1089-94. 2001
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| 20 | SLC45A2
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| Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka.
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| Fukamachi S, Shimada A, Shima A.
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| Nat Genet 28(4):381-5. 2001
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