title: Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.
authors.forename: I
authors.initials: I
authors.lastname: Ceballos-Picot
authors.forename: G
authors.initials: G
authors.lastname: Guest
authors.forename: V
authors.initials: V
authors.lastname: Moriniere
authors.forename: L
authors.initials: L
authors.lastname: Mockel
authors.forename: M
authors.initials: M
authors.lastname: Daudon
authors.forename: V
authors.initials: V
authors.lastname: Malan
authors.forename: C
authors.initials: C
authors.lastname: Antignac
authors.forename: Laurence
authors.initials: L
authors.lastname: Heidet
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors; D008969:Molecular Sequence Data; D010375:Pedigree; D024182:Uniparental Disomy / Q000175:diagnosis / Q000235:genetics*; D052878:Urolithiasis / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000228:Adenine Phosphoribosyltransferase