Article
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.
Human mutation - 1 Dec 2003
Njålsson Runa, Carlsson Katarina, Winkler Andreas, Larsson Agne, Norgren Svante
Abstract excerpt
The synthesis of the ubiquitous tripeptide glutathione is impaired in patients with glutathione synthetase deficiency. The defect is inherited in an autosomal recessive manner, and the diagnosis is based on clinical, biochemical, and genetic criteria. In seven of our 30 index cases, however, no disease causing mutations could be identified in the coding exons or exon-intron boundaries of the glutathione...
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