title: Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.
authors: Belén
authors: B
authors: Pérez
authors: Julián
authors: J
authors: Nevado
authors: Pablo
authors: P
authors: Lapunzina
authors: Lorena
authors: L
authors: Gallego
authors: Celia
authors: C
authors: Pérez-Cerdá
authors: Begoña
authors: B
authors: Merinero
authors: Magdalena
authors: M
authors: Ugarte
authors: Lourdes R
authors: LR
authors: Desviat
mesh_terms: D002869:Chromosome Aberrations; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006712:Homocystinuria / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation; D057089:Pathology, Molecular / Q000379:methods*; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency; D056693:Propionic Acidemia / Q000175:diagnosis / Q000235:genetics*; D024182:Uniparental Disomy / Q000175:diagnosis / Q000235:genetics*
chemical_list: D017875:Phosphotransferases (Phosphomutases)