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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

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dc.contributor.author García-Consuegra, Inés spa
dc.contributor.author Rubio, Juan Carlos spa
dc.contributor.author Nogales-Gadea, Gisela spa
dc.contributor.author Bautista, José M. spa
dc.contributor.author Jiménez Sáiz, Sergio Lorenzo spa
dc.contributor.author Cabello Sánchez, Ana Belén spa
dc.contributor.author Lucía Mulas, Alejandro spa
dc.contributor.author Andreu, Antoni L. spa
dc.contributor.author Arenas, Joaquín spa
dc.contributor.author Martín, Miguel Ángel spa
dc.date.accessioned 2013-11-27T17:26:02Z
dc.date.available 2013-11-27T17:26:02Z
dc.date.issued 2009 spa
dc.identifier.citation García-Consuegra, I., Rubio, J. C., Nogales-Gadea, G., Bautista, J. M., Jiménez-Sáiz, S., Cabello-Sánchez, A. B., ..., & Martín, M. A. (2009). Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease. Human Genetics, 125(3), 343. spa
dc.identifier.issn 14321203 spa
dc.identifier.uri http://hdl.handle.net/11268/400
dc.language.iso eng spa
dc.subject.other Point Mutation* spa
dc.subject.other Glycogen Phosphorylase, Muscle Form/*Deficiency spa
dc.subject.other Glycogen Phosphorylase, Muscle Form/*Genetics spa
dc.subject.other Glycogen Storage Disease Type V/*Enzymology spa
dc.subject.other Glycogen Storage Disease Type V/*Genetics spa
dc.subject.other Humans spa
dc.subject.other Introns spa
dc.subject.other Molecular Sequence Data spa
dc.subject.other Rna Splicing/Genetics spa
dc.title Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease spa
dc.type article spa
dc.description.impact 4.523 JCR (2009) Q1, 27/146 Genetics & heredity spa
dc.rights.accessRights closedAccess en
dc.subject.unesco Genética humana spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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