| 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 | OCA1, OCA1B, OCA2, TYR
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| Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
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| Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.
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| PLoS One 10(4):e0125651. doi: 10.1371/journal.pone.0125651. eCollection 2015.
2015
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| 3 | 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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| 4 | OCA1
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| Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).
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| Miyamura Y, Verma IC, Saxena R, Hoshi M, Murase A, Nakamura E, Kono M, Suzuki T, Yasue S, Shibata S, Sakakibara A, Tomita Y.
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| J Invest Dermatol 125(2):397-8. No abstract available. 2005
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| 5 | TYR, OCA1, OCA1B
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| Molecular basis of oculocutaneous albinism type 1 in Lebanese patients.
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| Zahed L, Zahreddine H, Noureddine B, Rebeiz N, Shakar N, Zalloua P, Haddad F.
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| J Hum Genet 50(6):317-9. Epub 2005 Jun 4. 2005
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| 6 | OCA1, TYR
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| Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
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| King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS.
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| Hum Genet 113(6):502-13. Epub 2003 Sep 10. 2003
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| 7 | OCA1, TYR, OCA1B
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| Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
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| Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D.
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| J Med Genet 38(1):35-8. 2001
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| 8 | OCA1, TYR
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| Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism.
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| Halaban R, Svedine S, Cheng E, Smicun Y, Aron R, Hebert DN.
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| Proc Natl Acad Sci U S A 97(11):5889-94. 2000
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| 9 | 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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| 10 | OCA1, WS2A, TYR
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| Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
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| Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr.
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| Hum Mol Genet 6(5):659-64. 1997
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| 11 | OCA1, TYR
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| Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
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| Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV.
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| Hum Mutat 10(2):171-4. No abstract available. 1997
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| 12 | OCA1, TYR
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| Type I oculocutaneous albinism associated with a full-length deletion ofthe tyrosinase gene.
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| Schnur RE, et al.
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| J Invest Dermatol 106 : 1137-1140. 1996
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| 13 | TYR, OCA1, OCA1B
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| Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
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| Fukai K, et al.
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| Nat Genet 9 : 92-95. 1995
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| 14 | TYR, OCA1
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| Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
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| Gershoni-Baruch R, et al.
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| Am J Hum Genet 54 : 586-594. 1994
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| 15 | OCA1, TYR
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| Type I oculocutaneous albinism (OCA1) associated with a large deletion of the tyrosinase (TYR) gene. (abstr)
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| Spritz RA, et al.
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| Am J Hum Genet 55 : A243. 1994
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| 16 | TYR, OCA1
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| Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
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| Tripathi RK, et al.
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| Am J Hum Genet 53 : 1173-1179. 1993
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| 17 | OCA1, TYR
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| Molecular basis of type I (tyrosinase-related) oculocutaneous albinism : mutations and polymorphisms of the human tyrosinase gene.
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| Oetting WS, et al.
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| Hum Mutat 2 : 1-6. 1993
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| 18 | TYR, OCA1
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| A dinucleotide deletion (-deltaGA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
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| Oetting WS, et al.
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| Hum Mol Genet 2 : 1047-1048. 1993
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| 19 | OCA1
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| Molecular analyses of a tyrosinase-negative albino family.
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| Park KC, et al.
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| Am J Hum Genet 52 : 406-413. 1993
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| 20 | OCA1
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| A frequent tyrosinase gene mutation associated with type 1-A (tyrosinase negative) oculotaneous albinism in Puerto Rico.
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| Oetting WS, et al.
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| Am J Hum Genet 52 : 17-23. 1993
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| 21 | OCA1, TYR
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| Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
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| Tripathi RK, et al.
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| Am J Med Genet 43 : 865-871. 1992
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| 22 | OCA1, TYR
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| Molecular analysis of type I-A (tyrosinase negative) oculocutanous albinism.
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| Oetting WS, et al.
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| Hum Genet 90 : 258-262. 1992
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| 23 | TYR, OCA1
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| Mutations of the tyrosinase gene in oculocutaneous albinism.
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| Shibahara S.
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| Pigment Cell Res 5 : 279-283. 1992
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| 24 | OCA1
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| A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculotaneous albinism.
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| Chintamaneni CD, et al.
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| Proc Natl Acad Sci U S A 88 : 5272-5276. 1991
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| 25 | OCA1
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| A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
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| Giebel LB, et al.
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| J Med Genet 28 : 464-467. 1991
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| 26 | OCA1
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| Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.
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| Oetting WS, et al.
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| Am J Hum Genet 49 : 199-206. 1991
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| 27 | OCA1
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| Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
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| King RA, et al.
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| Mol Biol Med 8 : 19-29. 1991
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| 28 | OCA1
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| Human albino mutations define functional sites within the tyrosinase polypeptide.
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| Tripathi RK, et al.
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| Am J Hum Genet 49S : 107. 1991
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| 29 | OCA1, TYR
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| A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.
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| Tripathi RK, et al.
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| Gene Exp 1 : 103-110. 1991
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| 30 | OCA1
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| Homozygous tyrosinase gene mutation in an American Black with tyrosinase-negative (type IA) oculocutaneus albinism.
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| Spritz RA, et al.
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| Am J Hum Genet 48 : 318-324. 1991
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| 31 | OCA1
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| A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism.
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| Giebel LB, et al.
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| J Clin Invest 87 : 1119-1122. 1991
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| 32 | OCA1
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| Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
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| King RA, et al.
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| J Clin Invest 87 : 1046-1053. 1991
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| 33 | OCA1
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| Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
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| Spritz RA, et al.
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| N Engl J Med 322 : 1724-1728. 1990
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| 34 | OCA1
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| A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneus albinism.
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| Giebel LB, et al.
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| Proc Natl Acad Sci U S A 87 : 3255-3258. 1990
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| 35 | OCA1, TYR
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| Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.
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| Kikuchi H, et al.
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| Hum Genet 85 : 123-124. 1990
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| 36 | OCA1
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| Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.
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| Takeda A, et al.
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| J Biol Chem 265 : 17792-17797. 1990
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