TY - JOUR AU - Gallego, Diana AU - Leal, Fátima AU - Gámez, Alejandra AU - Castro, Margarita AU - Navarrete, Rosa AU - Sanchez-Lijarcio, Obdulia AU - Vitoria, Isidro AU - Bueno-Delgado, María AU - Belanger-Quintana, Amaya AU - Morais, Ana AU - Pedrón-Giner, Consuelo AU - García, Inmaculada AU - Campistol, Jaume AU - Artuch, Rafael AU - Alcaide, Carlos AU - Cornejo, Veronica AU - Gil, David AU - Yahyaoui, Raquel AU - Desviat, Lourdes R AU - Ugarte, Magdalena AU - Martínez, Aurora AU - Pérez, Belén PY - 2020 DO - 10.1002/humu.24026 UR - http://hdl.handle.net/10668/15431 T2 - Human mutation AB - Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases of HPA. Biallelic variants... LA - en KW - DNAJC12 KW - hyperphenylalaninemia KW - molecular chaperones KW - phenylketonuria KW - proteostasis network KW - Adolescent KW - Adult KW - Alleles KW - Child KW - Child, Preschool KW - DNA Mutational Analysis KW - Exons KW - Humans KW - Infant KW - Infant, Newborn KW - Introns KW - Phenylketonurias KW - RNA Splicing KW - Repressor Proteins KW - Retrospective Studies KW - Spain TI - Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. TY - research article VL - 41 ER -