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

LARÓVERE LE; ANGARONI CJ; ANTONOZZI SL; BEZARD MB; SHIMOHAMA M,; DODELSON DE KREMER R

PERGAMON-ELSEVIER SCIENCE LTD

Año: 2009 vol. 42 p. 1166 - 1166

font color="#231f20" face="AdvTT6120e2aa" size="1">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.