title: The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: L B
authors.initials: LB
authors.lastname: Giebel
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D016115:Albinism, Oculocutaneous / Q000145:classification / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D003062:Codon; D003241:Consanguinity; D005006:Ethnicity / Q000235:genetics; D005796:Genes; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008543:Melanins / Q000096:biosynthesis; D014442:Monophenol Monooxygenase / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D009154:Mutation
chemical_list: D003062:Codon; D008543:Melanins; D014442:Monophenol Monooxygenase