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McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea, Gisela; Brull, Astrid; Santalla, Alfredo; Andreu, Antoni L; Arenas, Joaquin; Martín, Miguel A; Lucia, Alejandro; de Luna, Noemi; Pinós, Tomàs.
Affiliation
  • Nogales-Gadea G; Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain.
  • Brull A; Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), , Universitat Autónoma de Barcelona, Barcelona, Spain.
  • Santalla A; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Andreu AL; Universidad Pablo de Olavide, Sevilla, Spain.
  • Arenas J; Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.
  • Martín MA; Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), , Universitat Autónoma de Barcelona, Barcelona, Spain.
  • Lucia A; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • de Luna N; Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.
  • Pinós T; Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.
Hum Mutat ; 36(7): 669-78, 2015 Jul.
Article in En | MEDLINE | ID: mdl-25914343
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polymorphism, Genetic / Glycogen Storage Disease Type V / Glycogen Phosphorylase, Muscle Form / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polymorphism, Genetic / Glycogen Storage Disease Type V / Glycogen Phosphorylase, Muscle Form / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Spain