Open AccessPhenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
Author(s) -
JM van Montfrans,
Esther A R Hartman,
Kees P. J. Braun,
Frederic A. M. Hennekam,
A. Elisabeth Hak,
Paul J. Nederkoorn,
Willeke F. Westendorp,
Robbert G. M. Bredius,
Wouter J.W. Kollen,
Elisabeth H. Schölvinck,
G. Elizabeth Legger,
Isabelle Meyts,
Adrian Liston,
Klaske D. Lichtenbelt,
Jacques C. Giltay,
Gijs van Haaften,
G De Vries Simons,
Helen L. Leavis,
Stefan Nierkens,
C.J.G. Sanders,
Mariëlle van Gijn
Publication year - 2015
Publication title -
pediatric rheumatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.051
H-Index - 39
ISSN - 1546-0096
DOI - 10.1186/1546-0096-13-s1-o7
Subject(s) - pathogenesis , medicine , rheumatology , phenotype , compound heterozygosity , adenosine deaminase , adenosine deaminase deficiency , immunology , disease , genetics , gene , biology , adenosine
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