Article
Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.
Clinical biochemistry - 1 Jul 2009
Laróvere Laura E, Angaroni Celia J, Antonozzi Sandra L, Bezard Miriam B, Shimohama Mariko, de Kremer Raquel Dodelson
Abstract excerpt
OBJECTIVE: Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area. DESIGN AND METHODS: Molecular analysis in patient/relatives included PCR, sequencing and restriction enzyme assay. RESULTS: The studied families showed the same mutation: ASS~p.G390R,...
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