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Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA

Detalles Bibliográficos
Autores principales: Gomes, S Melo, Arostegui, J, Omoyinmi, E, Standing, A, Klein, N, Lachmann, H, Hawkins, P, Brogan, P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597063/
http://dx.doi.org/10.1186/1546-0096-13-S1-P45
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author Gomes, S Melo
Arostegui, J
Omoyinmi, E
Standing, A
Klein, N
Lachmann, H
Hawkins, P
Brogan, P
author_facet Gomes, S Melo
Arostegui, J
Omoyinmi, E
Standing, A
Klein, N
Lachmann, H
Hawkins, P
Brogan, P
author_sort Gomes, S Melo
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spelling pubmed-45970632015-10-08 Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA Gomes, S Melo Arostegui, J Omoyinmi, E Standing, A Klein, N Lachmann, H Hawkins, P Brogan, P Pediatr Rheumatol Online J Poster Presentation BioMed Central 2015-09-28 /pmc/articles/PMC4597063/ http://dx.doi.org/10.1186/1546-0096-13-S1-P45 Text en Copyright © 2015 Gomes et al. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Poster Presentation
Gomes, S Melo
Arostegui, J
Omoyinmi, E
Standing, A
Klein, N
Lachmann, H
Hawkins, P
Brogan, P
Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
title Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
title_full Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
title_fullStr Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
title_full_unstemmed Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
title_short Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
title_sort whole exome sequencing reveals a nlrp3 mutation in exon 5 in a patient with cinca
topic Poster Presentation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597063/
http://dx.doi.org/10.1186/1546-0096-13-S1-P45
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