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Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Garcia-Consuegra, Ines; Blázquez, Alberto; Rubio, Juan Carlos; Arenas, Joaquín; Ballester-Lopez, Alfonsina; González-Quintana, Adrián; Andreu, Antoni L; Pinós, Tomàs; Coll-Cantí, Jaume; Lucia, Alejandro; Nogales-Gadea, Gisela; Martín, Miguel A.
Affiliation
  • Garcia-Consuegra I; Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.
  • Blázquez A; Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.
  • Rubio JC; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Arenas J; Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.
  • Ballester-Lopez A; Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.
  • González-Quintana A; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Andreu AL; 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.
  • Coll-Cantí J; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Lucia A; Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.
  • Nogales-Gadea G; Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.
  • Martín MA; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Genet Med ; 18(11): 1128-1135, 2016 11.
Article in En | MEDLINE | ID: mdl-26913921
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type V / Glycogen Phosphorylase, Muscle Form / Pathology, Molecular Type of study: Diagnostic_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: España Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type V / Glycogen Phosphorylase, Muscle Form / Pathology, Molecular Type of study: Diagnostic_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: España Country of publication: Estados Unidos