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

Autor: Herbschleb-Voogt, Elly, Scholten, Jan-Willem, Khan, P. Meera
Zdroj: Human Genetics; April 1983, Vol. 63 Issue: 2 p121-125, 5p
Abstrakt: 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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