A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa

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dc.contributor.author Cuadrado-Corrales, N.
dc.contributor.author Sánchez Jimeno, Carolina
dc.contributor.author García Díez, Marta
dc.contributor.author Ayuso, C.
dc.contributor.author Lucas, R. de
dc.contributor.author Vicario, J.L.
dc.contributor.author Conti, Claudio J.
dc.contributor.author Zambruno, Giovanna
dc.contributor.author Escámez Toledano, María José
dc.contributor.author Río Nechaevsky, Marcela del
dc.date.accessioned 2013-04-24T08:56:52Z
dc.date.available 2013-04-24T08:56:52Z
dc.date.issued 2011-12
dc.identifier.bibliographicCitation Dermatology, december 2011, vol. 223, n.3, pp. 219-221
dc.identifier.issn 1018-8665 (print)
dc.identifier.issn 1421-9832 (online)
dc.identifier.uri http://hdl.handle.net/10016/16787
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Karger
dc.rights © 2011 S. Karger AG, Basel
dc.subject.other De novo mutation
dc.subject.other Dystrophic epidermolysis bullosa
dc.subject.other Genetic counseling
dc.subject.other Skin disease
dc.title A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa
dc.type article
dc.description.status Publicado
dc.relation.publisherversion http://dx.doi.org/10.1159/000330331
dc.subject.eciencia Biología y Biomedicina
dc.identifier.doi 10.1159/000330331
dc.rights.accessRights openAccess
dc.type.version acceptedVersion
dc.identifier.publicationfirstpage 219
dc.identifier.publicationissue 3
dc.identifier.publicationlastpage 221
dc.identifier.publicationtitle Dermatology
dc.identifier.publicationvolume 223
dc.identifier.uxxi AR/0000009792
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