Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.1999.550608.x/fullpdf
Reference20 articles.
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2. 5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation and psychosis;Robertson;J Pediatr,1991
3. Congenital non-spherogytic hemolytic anaemia associated with glutathione deficiency of the erythrocytes;Prins;Blood J Hematol,1966
4. The gene encoding human glutathione synthetase maps to the long arm of chromosome 20 at band 11.2;Webb;Genomics,1995
5. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria;Shi;Nat Genet,1996
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