THE STUDY AND CHARACTERIZATION OF RNA INSTABILITY MUTATIONS IN CARBAMYL PHOSPHATE SYNTHETASE I (CPSI) THROUGH THE DEVELOPMENT OF A NOVEL BAC-BASED MODEL SYSTEM
Carbamyl phosphate synthetase I (CPSI) is the liver-specific enzyme that catalyzes the first and rate-determining step of the urea cycle. Mutations in the CPSI gene cause CPSI Deficiency (CPSID), an autosomal recessive disease characterized by hyperammonemia. During the course of this project, many...
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| Format: | Others |
| Language: | en |
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VANDERBILT
2006
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| Online Access: | http://etd.library.vanderbilt.edu/available/etd-05222006-112437/ |