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dc.contributor | Universitat de Barcelona |
---|---|
dc.contributor.author | Fernández-Rodríguez, Juana |
dc.contributor.author | Castellsagué, Joan |
dc.contributor.author | Benito-Aracil, Llúcia |
dc.contributor.author | Benavente, Yolanda |
dc.contributor.author | Capellá, G. (Gabriel) |
dc.contributor.author | Blanco Guillermo, Ignacio |
dc.contributor.author | Serra, Eduard |
dc.contributor.author | Lázaro García, Conxi |
dc.date | 2014-04-08T11:26:41Z |
dc.date | 2014-04-08T11:26:41Z |
dc.date | 2011-07 |
dc.date | 2014-04-08T11:26:41Z |
dc.identifier.citation | 1059-7794 |
dc.identifier.citation | 595972 |
dc.identifier.uri | http://hdl.handle.net/2445/53349 |
dc.format | 5 p. |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Wiley |
dc.relation | Versió preprint del document publicat a: http://dx.doi.org/10.1002/humu.21500 |
dc.relation | Human Mutation, 2011, vol. 32, num. 7, p. 705-709 |
dc.relation | http://dx.doi.org/10.1002/humu.21500 |
dc.rights | (c) Wiley, 2011 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Neurofibromatosi |
dc.subject | Fenotip |
dc.subject | Neurofibromatosis |
dc.subject | Phenotype |
dc.title | A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/submittedVersion |
dc.description.abstract |