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In situ genetic complementation analysis of cells with generalized peroxisomal dysfunction
A K Singh1, N Kulvatunyou, I Singh
1Department of Pathology/Laboratory Medicine, Medical University of South Carolina, Charleston.
Human Heredity
|January 1, 1989
Abstract:
Most patients with Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidemia are characterized by a deficiency of peroxisomes. We have developed a simple cytological method for the in situ detection of genetic complementation among and between these patients who are clinically and biochemically defined as having generalized peroxisomal dysfunction. This technique should facilitate both complementation studies in these disorders and investigations into the biogenesis of peroxisomes.