| 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 | OCA3, TYRP1
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| In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
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| Kamaraj B, Purohit R.
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| Biomed Res Int 2013:697051. doi: 10.1155/2013/697051. Epub 2013 Jun 19.
2013
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| 3 | OCA3, TYRP1
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| Complex interactions of Tyrp1 in the eye.
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| Lu H, Li L, Watson ER, Williams RW, Geisert EE, Jablonski MM, Lu L.
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| Mol Vis 17:2455-68. Epub 2011 Sep 22.
2011
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| 4 | OCA3, TYRP1
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| Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.
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| Rooryck C, Roudaut C, Robine E, MŸsebeck J, Arveiler B.
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| Pigment Cell Res 19(3):239-42. 2006
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| 5 | OCA1, TYR, OCA3, TYRP1, OCA1B
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| Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.
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| Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER.
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| Clin Genet 68(2):182-4. No abstract available. 2005
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| 6 | LYST, HPS1, OCA1, OCA2, OCA3, OA1, CHS1
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| Molecular basis of albinism : mutations and polymorphisms of pigmentation genes associated with albinism.
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| Oetting WS, et al.
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| Hum Mutat 13 : 99-115. 1999
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| 7 | OCA3, TYRP1
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| Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1.
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| Box NF, Wyeth JR, Mayne CJ, O'Gorman LE, Martin NG, Sturm RA.
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| Mamm Genome 9(1):50-3. 1998
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| 8 | OCA3, TYRP1
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| Rufous oculocutaneous albinism in Southern African Blacks is caused by mutations in the TYRP1 gene.
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| Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M.
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| Am J Hum Genet 61(5):1095-101. 1997
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| 9 | TYRP1, OCA3
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| Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism : a new sybtype of albinism classified as OCA3.
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| Boissy RE, et al.
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| Am J Hum Genet 58 : 1145-1156. 1996
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