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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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