Browsing by Author "6faa9b8f-7f05-4077-8fb8-0dbc83a6ba66"
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Gallego, Diana; Leal, Fatima; Gámez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sánchez Lijarcio, Obdulia; Vitoria, Isidro; Bueno Delgado, María; Belanger Quintana, Amaya; Morais, Ana; Pedrón Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo Espinoza, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R.; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén (Wiley, 2020)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 ...