Structural organization of the human car
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S. Funghini; M.A. Donati; E. Pasquini; E. Zammarchi; A. Morrone
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Article
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2003
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John Wiley and Sons
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English
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Communicated by Jean-Louis Mandel ## Carbamyl Phosphate Synthetase I deficiency (CPSID) is a rare autosomal recessive urea cycle disorder usually characterized by potentially lethal neonatal hyperammonemia. The large (5215 bp) CPS1-cDNA, expressed only in liver and epithelial cells of intestinal