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