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  • Title: Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.
    Author: Markert ML, Hershfield MS, Wiginton DA, States JC, Ward FE, Bigner SH, Buckley RH, Kaufman RE, Hutton JJ.
    Journal: J Immunol; 1987 May 15; 138(10):3203-6. PubMed ID: 3571974.
    Abstract:
    A patient with adenosine deaminase-deficient severe combined immunodeficiency is described whose defect is secondary to deletion of a portion of the ADA structural gene. In Southern analyses, DNA from this patient does not hybridize to a genomic probe that includes the 3' end of exon 1. This implies that both his parents are heterozygous for deletions of exon 1 sequences. Consistent with this finding, the patient has no detectable adenosine deaminase mRNA by Northern analysis. This is the first report of a deletion mutation as the cause of adenosine deaminase deficiency.
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