title: Novel human pathological mutations. Gene symbol: TYR. Disease: tyrosinase deficiency.
authors.affiliation: Indian Institute of Chemical Biology, Molecular and Human Genetics Division, 4, Raja S. C. Mullick Road, Jadavpur, 700 032, Kolkata, India. kunalray@gmail.com
authors.forename: Kunal
authors.initials: K
authors.lastname: Ray
authors.forename: Moumita
authors.initials: M
authors.lastname: Chaki
authors.forename: Mainak
authors.initials: M
authors.lastname: Sengupta
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007194:India; D014442:Monophenol Monooxygenase / Q000172:deficiency* / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: D003062:Codon; D014442:Monophenol Monooxygenase