Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle

  • Lisa Göschl
  • Stefan Winkler
  • Jasmin Dmytrus
  • Raul Jimenez Heredia
  • Heimo Lagler
  • Michael Ramharter
  • Clemens Scheinecker
  • Michael Bonelli
  • Klaus Schmetterer
  • Winfried F. Pickl
  • Katharina Grabmeier-Pfistershammer
  • Michael S. Hershfield
  • Kaan Boztug
  • Elisabeth Förster-Waldl
  • Guido A. Gualdoni

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Bibliographical data

Original languageEnglish
ISSN0271-9142
DOIs
Publication statusPublished - 01.01.2020