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dc.contributor.author | Soler-Palacín, Pere |
---|---|
dc.contributor.author | Garcia-Prat, Marina |
dc.contributor.author | Martín-Nalda, Andrea |
dc.contributor.author | Franco-Jarava, Clara |
dc.contributor.author | Rivière, Jacques G. |
dc.contributor.author | Plaja, Alberto |
dc.contributor.author | Bezdan, Daniela |
dc.contributor.author | Bosio, Mattia |
dc.contributor.author | Martínez-Gallo, Mónica |
dc.contributor.author | Ossowski, Stephan |
dc.contributor.author | Colobran, Roger |
dc.date | 2018 |
dc.identifier.citation | Soler-Palacín P, Garcia-Prat M, Martín-Nalda A, Franco-Jarava C, Rivière JG, Plaja A, Bezdan D, Bosio M, Martínez-Gallo M, Ossowski S, Colobran R. LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy. Front Immunol. 2018; 9:2397. DOI 10.3389/fimmu.2018.02397 |
dc.identifier.citation | 1664-3224 |
dc.identifier.citation | http://dx.doi.org/10.3389/fimmu.2018.02397 |
dc.identifier.uri | http://hdl.handle.net/10230/42862 |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Frontiers |
dc.relation | Front Immunol. 2018; 9:2397 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | © 2018 Soler-Palacín, Garcia-Prat, Martín-Nalda, Franco-Jarava, Rivière, Plaja, Bezdan, Bosio, Martínez-Gallo, Ossowski and Colobran. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (http://creativecommons.org/licenses/by/4.0/). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
dc.rights | http://creativecommons.org/licenses/by/4.0/ |
dc.subject | Primary immunodeficiency |
dc.subject | LRBA deficiency |
dc.subject | Uniparental disomy |
dc.subject | Whole exome sequencing |
dc.subject | Comparative genomic hybridization array |
dc.title | LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
dc.description.abstract |