Associated Papers
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
39846592 (PubMed )
Supplement: IJNS-11-00006-s001.zip › IJNS-3344349-supplementary.pdf
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.
Essadssi S et al.
Journal of Immunology Research, 2019
31781678 (PubMed )
Supplement: 5902391.f1.pdf
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
Hirschhorn R et al.
Human Genetics, 1997
Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).
Hirschhorn R et al.
Cellular Immunology, 1993
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