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dc.contributor | Universitat de Barcelona |
---|---|
dc.contributor.author | López de Heredia, Miguel |
dc.contributor.author | Clèries Soler, Ramon |
dc.contributor.author | Nunes Martínez, Virginia |
dc.date | 2013-10-31T09:04:49Z |
dc.date | 2013-10-31T09:04:49Z |
dc.date | 2013-02-21 |
dc.date | 2013-10-31T09:04:49Z |
dc.identifier.citation | 1098-3600 |
dc.identifier.citation | 621851 |
dc.identifier.uri | http://hdl.handle.net/2445/47404 |
dc.format | 10 p. |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | American College of Medical Genetics and Genomics |
dc.relation | Versió postprint del document publicat a: http://dx.doi.org/10.1038/gim.2012.180 |
dc.relation | Genetics in Medicine, 2013, vol. 15, num. 7, p. 497-506 |
dc.relation | http://dx.doi.org/10.1038/gim.2012.180 |
dc.rights | (c) López de Heredia, Miguel et al., 2013 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Mutació (Biologia) |
dc.subject | Fenotip |
dc.subject | Malalties hereditàries |
dc.subject | Genètica humana |
dc.subject | Degeneració (Patologia) |
dc.subject | Mutation (Biology) |
dc.subject | Phenotype |
dc.subject | Genetic diseases |
dc.subject | Human genetics |
dc.subject | Degeneration (Pathology) |
dc.title | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/acceptedVersion |
dc.description.abstract |