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Basic defect in the expression of adenosine deaminase in ADA -SCID disease

II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids

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Summary

A specific competitive radioimmunoassay (RIA) was employed to quantify human adenosine deaminase molecules produced in human-Chinese hamster somatic cell hybrids. Studies on a set of hybrids in which the normal and aberrant expressions of adenosine deaminase (assigned earlier to human chromosome 20) were segregating, have demonstrated that in the patient with ADA -SCID disease reported by Herbschleb-Voogt et al (1981a), the deficiency of ADA activity was associated with a comparable deficiency of adenosine deaminase specific immuno-crossreacting material (ADA-CRM).

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Part I of this study has been reported earlier (Hum Genet 56:379–386, 1981)

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Herbschleb-Voogt, E., Scholten, JW. & Khan, P.M. Basic defect in the expression of adenosine deaminase in ADA -SCID disease. Hum Genet 63, 121–125 (1983). https://doi.org/10.1007/BF00291530

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  • DOI: https://doi.org/10.1007/BF00291530

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