title: Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.
authors.affiliation: Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia.
authors.forename: A
authors.initials: A
authors.lastname: Maddalena
authors.forename: D M
authors.initials: DM
authors.lastname: Sosnoski
authors.forename: G T
authors.initials: GT
authors.lastname: Berry
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
mesh_terms: D001483:Base Sequence; D002460:Cell Line; D002675:Child, Preschool; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D006801:Humans; D008297:Male; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease
chemical_list: D004247:DNA; D009954:Ornithine Carbamoyltransferase; D004262:DNA Restriction Enzymes