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Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene

โœ Scribed by M.L. Summar; L.D. Hall; A.M. Eeds; H.B. Hutcheson; A.N. Kuo; A.S. Willis; V. Rubio; M.K. Arvin; J.P. Schofield; E.P. Dawson


Book ID
117521314
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
136 KB
Volume
311
Category
Article
ISSN
0378-1119

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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