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Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.
- Source :
-
Journal of clinical immunology [J Clin Immunol] 2019 Nov; Vol. 39 (8), pp. 842-845. Date of Electronic Publication: 2019 Oct 15. - Publication Year :
- 2019
- Subjects :
- Adenosine Deaminase genetics
Adenosine Deaminase immunology
Agammaglobulinemia diagnosis
Agammaglobulinemia immunology
Child
Female
Homozygote
Humans
Intercellular Signaling Peptides and Proteins deficiency
Loss of Function Mutation
Mutation
RNA Splicing genetics
Severe Combined Immunodeficiency diagnosis
Severe Combined Immunodeficiency immunology
Adenosine Deaminase deficiency
Agammaglobulinemia genetics
Intercellular Signaling Peptides and Proteins genetics
RNA Splice Sites genetics
RNA Splicing immunology
Severe Combined Immunodeficiency genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2592
- Volume :
- 39
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Journal of clinical immunology
- Publication Type :
- Report
- Accession number :
- 31617030
- Full Text :
- https://doi.org/10.1007/s10875-019-00697-2