Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients-Reference-Cited by-同舟云学术

Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Published:2014-03-05 Issue:4 Volume:35 Page:470-477
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

García-Cazorla Angels¹,Oyarzabal Alfonso²,Fort Joana³,Robles Concepción⁴,Castejón Esperanza⁵,Ruiz-Sala Pedro²,Bodoy Susanna³,Merinero Begoña²,Lopez-Sala Anna¹,Dopazo Joaquín⁶⁷⁸,Nunes Virginia⁹,Ugarte Magdalena²,Artuch Rafael¹⁰,Palacín Manuel³,Rodríguez-Pombo Pilar²,Alcaide Patricia²,Navarrete Rosa²,Sanz Paloma²,Font-Llitjós Mariona⁷,Vilaseca Ma Antonia⁸,Ormaizabal Aida⁸,Pristoupilova Anna¹¹,Agulló Sergi Beltran¹¹

Affiliation:

1. Department of Neurology; Hospital Sant Joan de Déu (HSJD), CIBER de Enfermedades Raras (CIBERER); Barcelona Spain

2. Centro de Diagnóstico de Enfermedades Moleculares (CEDEM); Centro de Biología Molecular “Severo Ochoa” CSIC-UAM, Departamento de Biología Molecular, Universidad Autónoma de Madrid, CIBER de Enfermedades Raras (CIBERER); IDIPAZ Madrid Spain

3. Institute for Research in Biomedicine (IRB Barcelona); Department of Biochemistry and Molecular Biology; Faculty of Biology; University of Barcelona, CIBER de Enfermedades Raras (CIBERER); Barcelona Spain

4. Paediatrics’ Department; San Cecilio Hospital; Granada Spain

5. Department of Gastroenterology; Hospital Sant Joan de Déu (HSJD); Barcelona Spain

6. Computational Genomics Department; Centro de Investigación Príncipe Felipe (CIPF); Valencia Spain

7. Functional Genomics Node, (INB) at CIPF; Valencia Spain

8. CIBER de Enfermedades Raras (CIBERER); Valencia Spain

9. Laboratorio de Genética Molecular, IDIBELL; Departament de Ciències Fisiològiques II, Facultad de Medicina, University of Barcelona, U-730 CIBER de Enfermedades Raras (CIBERER); Barcelona Spain

10. Department of Biochemistry; Hospital Sant Joan de Déu (HSJD), CIBER de Enfermedades Raras (CIBERER); Barcelona Spain

11. National Center of Genomic Analysis, Barcelona, Spain)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference38 articles.

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