title: Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome.
authors.forename: François M
authors.initials: FM
authors.lastname: Petit
authors.forename: Marylise
authors.initials: M
authors.lastname: Hébert
authors.forename: Vincent
authors.initials: V
authors.lastname: Gajdos
authors.forename: Liliane
authors.initials: L
authors.lastname: Capel
authors.forename: Ridha
authors.initials: R
authors.lastname: M'Rad
authors.forename: Philippe
authors.initials: P
authors.lastname: Labrune
mesh_terms: D001483:Base Sequence; D003414:Crigler-Najjar Syndrome / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011401:Promoter Regions, Genetic / Q000235:genetics*; D000099148:UGT1A1 Enzyme
chemical_list: D005819:Genetic Markers; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme