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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597174/ http://dx.doi.org/10.1186/1546-0096-13-S1-O7 |
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author | Van Montfrans, J Hartman, E Braun, K Hennekam, F Hak, A Nederkoorn, P Westendorp, W Bredius, R Kollen, W Scholvinck, E Legger, G Meyts, I Liston, A Lichtenbelt, K Giltay, J Van Haaften, G De Vries Simons, G Leavis, H Nierkens, S Sanders, C Van Gijn, M |
author_facet | Van Montfrans, J Hartman, E Braun, K Hennekam, F Hak, A Nederkoorn, P Westendorp, W Bredius, R Kollen, W Scholvinck, E Legger, G Meyts, I Liston, A Lichtenbelt, K Giltay, J Van Haaften, G De Vries Simons, G Leavis, H Nierkens, S Sanders, C Van Gijn, M |
author_sort | Van Montfrans, J |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-4597174 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-45971742015-10-08 Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations Van Montfrans, J Hartman, E Braun, K Hennekam, F Hak, A Nederkoorn, P Westendorp, W Bredius, R Kollen, W Scholvinck, E Legger, G Meyts, I Liston, A Lichtenbelt, K Giltay, J Van Haaften, G De Vries Simons, G Leavis, H Nierkens, S Sanders, C Van Gijn, M Pediatr Rheumatol Online J Oral Presentation BioMed Central 2015-09-28 /pmc/articles/PMC4597174/ http://dx.doi.org/10.1186/1546-0096-13-S1-O7 Text en Copyright © 2015 Van Montfrans 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 | Oral Presentation Van Montfrans, J Hartman, E Braun, K Hennekam, F Hak, A Nederkoorn, P Westendorp, W Bredius, R Kollen, W Scholvinck, E Legger, G Meyts, I Liston, A Lichtenbelt, K Giltay, J Van Haaften, G De Vries Simons, G Leavis, H Nierkens, S Sanders, C Van Gijn, M Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations |
title | Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations |
title_full | Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations |
title_fullStr | Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations |
title_full_unstemmed | Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations |
title_short | Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations |
title_sort | phenotypic variability in patients with ada2 deficiency due to identical homozygous r169q mutations |
topic | Oral Presentation |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597174/ http://dx.doi.org/10.1186/1546-0096-13-S1-O7 |
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