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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
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
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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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