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DADA2 deficiency caused by new homozygous variation in 22q11.1.
- Source :
-
Clinical and experimental rheumatology [Clin Exp Rheumatol] 2024 Oct; Vol. 42 (10), pp. 2098-2099. Date of Electronic Publication: 2024 Jun 20. - Publication Year :
- 2024
- Subjects :
- Humans
Genetic Predisposition to Disease
Intercellular Signaling Peptides and Proteins genetics
Intercellular Signaling Peptides and Proteins deficiency
Male
Female
Chromosomes, Human, Pair 22 genetics
Severe Combined Immunodeficiency genetics
Severe Combined Immunodeficiency diagnosis
Mutation
DNA Mutational Analysis
Adenosine Deaminase
Homozygote
Phenotype
Subjects
Details
- Language :
- English
- ISSN :
- 0392-856X
- Volume :
- 42
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Clinical and experimental rheumatology
- Publication Type :
- Report
- Accession number :
- 38910582
- Full Text :
- https://doi.org/10.55563/clinexprheumatol/0sk81a