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.

Published online

Journal Article (Letter)

Full Text

Duke Authors

Cited Authors

  • Göschl, L; Winkler, S; Dmytrus, J; Heredia, RJ; Lagler, H; Ramharter, M; Scheinecker, C; Bonelli, M; Schmetterer, K; Pickl, WF; Grabmeier-Pfistershammer, K; Hershfield, MS; Boztug, K; Förster-Waldl, E; Gualdoni, GA

Published Date

  • November 4, 2019

Published In

PubMed ID

  • 31686313

Pubmed Central ID

  • 31686313

Electronic International Standard Serial Number (EISSN)

  • 1573-2592

Digital Object Identifier (DOI)

  • 10.1007/s10875-019-00700-w

Language

  • eng

Conference Location

  • Netherlands