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Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

In 15-20% of children with severe combined immunodeficiency (SCID), the underlying defect is adenosine deaminase (ADA) deficiency. The goal of this study was to determine the precise molecular defect in a patient with ADA-deficient SCID whom we previously have shown to have a total absence of ADA mR...

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Bibliografiske detaljer
Main Authors: Markert, M L, Hutton, J J, Wiginton, D A, States, J C, Kaufman, R E
Format: Artigo
Sprog:Inglês
Udgivet: 1988
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC442559/
https://ncbi.nlm.nih.gov/pubmed/3366897
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