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

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dc.contributor.authorGarcía-Consuegra, Inésspa
dc.contributor.authorRubio, Juan Carlosspa
dc.contributor.authorNogales-Gadea, Giselaspa
dc.contributor.authorBautista, José M.spa
dc.contributor.authorJiménez Sáiz, Sergio Lorenzo
dc.contributor.authorCabello Sánchez, Ana Belénspa
dc.contributor.authorLucía Mulas, Alejandro
dc.contributor.authorAndreu, Antoni L.spa
dc.contributor.authorArenas, Joaquínspa
dc.contributor.authorMartín, Miguel Ángelspa
dc.date.accessioned2013-11-27T17:26:02Z
dc.date.available2013-11-27T17:26:02Z
dc.date.issued2009spa
dc.description.filiationUEMspa
dc.description.impact4.523 JCR (2009) Q1, 27/146 Genetics & heredityspa
dc.identifier.citationGarcía-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.issn14321203spa
dc.identifier.urihttp://hdl.handle.net/11268/400
dc.language.isoengspa
dc.peerreviewedSispa
dc.rights.accessRightsrestricted accessen
dc.subject.otherPoint Mutation*spa
dc.subject.otherGlycogen Phosphorylase, Muscle Form/*Deficiencyspa
dc.subject.otherGlycogen Phosphorylase, Muscle Form/*Geneticsspa
dc.subject.otherGlycogen Storage Disease Type V/*Enzymologyspa
dc.subject.otherGlycogen Storage Disease Type V/*Geneticsspa
dc.subject.otherHumansspa
dc.subject.otherIntronsspa
dc.subject.otherMolecular Sequence Dataspa
dc.subject.otherRna Splicing/Geneticsspa
dc.subject.unescoGenética humanaspa
dc.titleNovel human pathological mutations. Gene symbol: PYGM. Disease: McArdle diseasespa
dc.typejournal articlespa
dspace.entity.typePublication
relation.isAuthorOfPublicationffc7d1e8-f040-4a94-bde8-0353fdf7a5e3
relation.isAuthorOfPublicationd3691359-d7bd-4a12-b84e-338e28c81f9f
relation.isAuthorOfPublication.latestForDiscoveryffc7d1e8-f040-4a94-bde8-0353fdf7a5e3

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