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Linkage and fish analysis of the human carbamyl phosphate synthetase I gene and its reassignment to 2q35


Book ID
123243615
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
169 KB
Volume
108
Category
Article
ISSN
0016-5085

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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