Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

This is the peer reviewed version of the following article: Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. Human Mutation (2020): 25 April, which has been published in final form at [https://doi.org/10.1002/humu.24026. This ar...

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Detalles Bibliográficos
Autores: Gallego, Diana, Leal, Fátima, Gámez Abascal, María Alejandra, Castro, Margarita, Navarrete, Rosa, Sanchez-Lijarcio, Obdulia, Vitoria, Isidro, Bueno-Delgado, María, Belanger-Quintana, Amaya, Morais, Ana, Pedrón-Giner, Consuelo, García, Inmaculada, Campistol, Jaume, Artuch, Rafael, Alcaide, Carlos, Cornejo, Veronica, Gil, David, Yahyaoui, Raquel, Ruiz Desviat, Lourdes, Ugarte, Magdalena, Martínez, Aurora, Pérez González, María Belén
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universidad Autónoma de Madrid
Repositorio:Biblos-e Archivo. Repositorio Institucional de la UAM
Idioma:inglés
OAI Identifier:oai:repositorio.uam.es:10486/690974
Acceso en línea:http://hdl.handle.net/10486/690974
https://dx.doi.org/10.1002/humu.24026
Access Level:acceso abierto
Palabra clave:DNAJC12
hyperphenylalaninemia
phenylketonuria
molecular chaperones
proteostasis network
Biología y Biomedicina / Biología
Descripción
Sumario:This is the peer reviewed version of the following article: Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. Human Mutation (2020): 25 April, which has been published in final form at [https://doi.org/10.1002/humu.24026. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions

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