Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia-Reference-Cited by-同舟云学术

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

Published:2020-04-30 Issue:7 Volume:41 Page:1329-1338
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gallego Diana¹,Leal Fátima¹,Gámez Alejandra¹,Castro Margarita¹,Navarrete Rosa¹,Sanchez‐Lijarcio Obdulia¹,Vitoria Isidro²,Bueno‐Delgado María³,Belanger‐Quintana Amaya⁴,Morais Ana⁵,Pedrón‐Giner Consuelo⁶,García Inmaculada⁷,Campistol Jaume⁸,Artuch Rafael⁸,Alcaide Carlos⁹,Cornejo Veronica¹⁰,Gil David¹¹,Yahyaoui Raquel¹²,Desviat Lourdes R.¹,Ugarte Magdalena¹,Martínez Aurora¹³^ORCID,Pérez Belén¹^ORCID

Affiliation:

1. Centro de Diagnóstico de Enfermedades MolecularesUniversidad Autónoma de Madrid Madrid Spain

2. Unidad de Nutrición y MetabolopatíasHospital Universitario La Fe Valencia Spain

3. Departamento de PediatríaHospital Virgen del Rocío Seville Spain

4. Unidad de Enfermedades Metabólicas CongénitasHospital Universitario Ramón y Cajal Madrid Spain

5. Unidad de Nutrición Infantil y Enfermedades MetabólicasHospital Universitario La Paz Madrid Spain

6. Unidad de Gastroenterología y NutriciónHospital Infantil Universitario Niño Jesús Madrid Spain

7. Unidad de Enfermedades MetabólicasHospital Universitario Miguel Servet Zaragoza Spain

8. Unidad de Enfermedades Metabólicas CongénitasInstitut de Recerca and Hospital Universitario Sant Joan de Déu Barcelona Spain

9. Hospital Universitario Río Hortega Valladolid Spain

10. INTA Santiago Chile

11. Unidad de Gastroenterología, Hepatología y Nutrición PediátricaHospital Virgen de la Arrixaca Murcia Spain

12. Unidad de Metabolopatías Instituto de Investigación Biomédica de Málaga‐IBIMAHospital Regional Universitario de Málaga Málaga Spain

13. Department of BiomedicineUniversity of Bergen Bergen Norway

Funder

Consejería de Educación e Investigación

Ministerio de Ciencia Tecnología y Telecomunicaciones

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24026

Reference26 articles.

1. Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria

2. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

3. Genetics of Phenylketonuria: Then and Now

4. DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias

5. Phenylketonuria

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