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Oculocutaneous albinism type 1: the last 100 years.
Oetting WS, Fryer JP, Shriram S, King RA. Oetting WS, et al. Pigment Cell Res. 2003 Jun;16(3):307-11. doi: 10.1034/j.1600-0749.2003.00045.x. Pigment Cell Res. 2003. PMID: 12753405 Review.
Currently, 12 different genes have been identified, that when mutated, result in a different type of albinism. Oculocutaneous albinism type 1 (OCA1), resulting from mutations of the tyrosinase gene, is genetically and biochemically the best understood …
Currently, 12 different genes have been identified, that when mutated, result in a different type of albinism. Oculocutaneous albi …
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.
Ray K, Chaki M, Sengupta M. Ray K, et al. Prog Retin Eye Res. 2007 Jul;26(4):323-58. doi: 10.1016/j.preteyeres.2007.01.001. Epub 2007 Jan 17. Prog Retin Eye Res. 2007. PMID: 17355913 Review.
Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance. ...
Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a …
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS. Oetting WS. Pigment Cell Res. 2000 Oct;13(5):320-5. doi: 10.1034/j.1600-0749.2000.130503.x. Pigment Cell Res. 2000. PMID: 11041207 Review.
Different mutations of the tyrosinase gene (TYR) , and their association with oculocutaneous albinism type 1 (OCA1) has provided insight into the biology of tyrosinase, including protein trafficking and structure/function analysis. ...
Different mutations of the tyrosinase gene (TYR) , and their association with oculocutaneous albinism type 1 (OC …