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Article

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.

Genomics - 1 Aug 1990

Berkvens T M, van Ormondt H, Gerritsen E J, Khan P M, van der Eb A J

Abstract excerpt

Recently, we investigated a Belgian patient with severe combined immune deficiency caused by a dysfunction of the gene for adenosine deaminase (ADA-SCID), which was found to be due to a 3.2-kb deletion spanning the promoter and the first exon of the ADA gene (Berkvens et al., 1987, Eur. J. Pediatr. 146:329). No ADA-specific RNA could be detected in primary fibroblasts derived from this patient. In the present...

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Source

Identifiers

PMID: 1696926
DOI: 10.1016/0888-7543(90)90190-6

Genes

ADA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.PMID 1696926Read ↗

Molecular basis of adenosine deaminase deficiency.Semantic proximity Read ↗

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Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.Semantic proximity Read ↗

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.Semantic proximity Read ↗

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Human RNA-specific adenosine deaminase <i>ADAR1</i> transcripts possess alternative exon 1 structures that initiate from different promoters, one constitutively active and the other interferon inducibleSemantic proximity Read ↗

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Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.Semantic proximity Read ↗

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