title: Novel human pathological mutations. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
authors.affiliation: Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India. renu.saxena@sgrh.com
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D006579:Heterozygote; D006801:Humans; D014442:Monophenol Monooxygenase / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D014442:Monophenol Monooxygenase