title: Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1.
authors.affiliation: Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D003414:Crigler-Najjar Syndrome / Q000201:enzymology / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D016254:Mutagenesis, Insertional; D000099148:UGT1A1 Enzyme
chemical_list: D003062:Codon; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme