About: 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     Goto   Sponge   NotDistinct   Permalink

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scientific article published on 04 November 2019

AttributesValues
rdf:type
description
  • wetenschappelijk artikel (nl)
  • artículu científicu espublizáu en payares de 2019 (ast)
  • scientific article published on 04 November 2019 (en)
  • наукова стаття, опублікована 4 листопада 2019 (uk)
publication date
publication date
author name string
author name string
  • Kaan Boztug
  • Stefan Winkler
  • Michael S Hershfield
  • Michael Bonelli
  • Lisa Göschl
  • Winfried F Pickl
  • Clemens Scheinecker
  • Klaus Schmetterer
  • Guido A Gualdoni
  • Jasmin Dmytrus
  • Raul Jimenez Heredia
rdfs:label
  • 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 (en)
  • 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 (nl)
skos:prefLabel
  • 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 (en)
  • 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 (nl)
name
  • 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 (en)
  • 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 (nl)
author
author
title
title
  • 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 (en)
page(s)
page(s)
  • 223-226
instance of
instance of
PubMed ID
PubMed ID
PubMed ID
  • 31686313
published in
published in
issue
volume
issue
  • 1
volume
  • 40
DOI
DOI
DOI
  • 10.1007/S10875-019-00700-W
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