共 59 条
[1]
Jay B., Carruthers J., Treplin M.C.W., Winder A., Human albinism, Birth Defects: Original Article Series., 12, pp. 415-426, (1976)
[2]
Jay B., Pediatric Ophthalmology: Current Aspects, New York: Marcel Dekker., pp. 447-456, (1983)
[3]
Russell-Eggitt I., Kriss A., Taylor D., Albinism in childhood: a flash VEP and ERG study, Br J Ophthalmol, 74, pp. 136-140, (1990)
[4]
Prota G., Recent advances in the chemistry of melanogenesis in mammals, J Invest Dermatol, 75, pp. 122-127, (1980)
[5]
Winder A.J., Harris H., New assays for the tyrosine hydroxylase and dopa oxidase activities of tyrosine, Eur J Biochem, 198, pp. 317-326, (1991)
[6]
Barton D.E., Kwon B.S., Francke U., Human tyrosinase gene, mapped to chromosome 11 (q14–21), defines second region of homology with mouse chromosome 7, Genomics, 3, pp. 17-24, (1988)
[7]
Oetting W.S., Mentink M., Summers C.G., Lewis R.A., White J.G., King R.A., Three different frameshift mutations of the tyrosinase gene in type 1A oculocutaneous albinism, Am J Hum Genet, 49, pp. 199-206, (1991)
[8]
Giebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A., Tyrosinase gene mutations associated with type 1B (“yellow”) oculocutaneous albinism, Am J Hum Genet, 48, pp. 1159-1167, (1991)
[9]
Giebel L.B., Tripathi R.K., King R.A., Spritz R.A., A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism, a human homologue to the Siamese cat and Himalayan mouse, J Clin lnvest, 87, pp. 1119-1122, (1991)
[10]
King R.A., Townsend D.E.W., Oetting W., Summer E., Olds F., White J., Spritz R.A., Temperature sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism, J Clin Invest, 87, pp. 1046-1053, (1991)