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Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0130-6
Abstract: Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference…
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Keywords:
reference centres;
adenosine deaminase;
decision tree;
deficiency adenosine ... See more keywords