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Genetic analysis of carbamyl phosphate synthetase I deficiency

โœ Scribed by Eric R. Fearon; Richard L. Mallonee; John A. Phillips; William E. O'Brien; Saul W. Brusilow; Mark W. Adcock; Lorne T. Kirby


Publisher
Springer
Year
1985
Tongue
English
Weight
924 KB
Volume
70
Category
Article
ISSN
0340-6717

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Structural organization of the human car
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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