Article
Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1.
Molecular genetics and metabolism - 1 Jul 2012
Kretz Rita, Hu Liyan, Wettstein Véronique, Leiteritz Dana, Häberle Johannes
Abstract excerpt
Carbamoylphosphate synthetase 1 (CPS1) is the first enzyme of the urea cycle. CPS1 deficiency is a rare autosomal-recessively inherited disorder that can lead to life-threatening hyperammonemia. Since there is no reliable biochemical marker for this disease, diagnosis relies on molecular means which is often done by RNA-based mutation analysis. Skin fibroblasts have been frequently used as a source of RNA while...
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