Articles with "reference centres" as a keyword



Photo from wikipedia

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Sign Up to like & get
recommendations!
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… read more here.

Keywords: reference centres; adenosine deaminase; decision tree; deficiency adenosine ... See more keywords