Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998468 | Molecular Genetics and Metabolism | 2011 | 4 Pages |
Abstract
CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varying from 1.4Â kb to >Â 130Â kb in the CPS1 gene of 4 unrelated patients by targeted array CGH. These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated.
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Biochemistry
Authors
Jing Wang, Oleg A. Shchelochkov, Hongli Zhan, Fangyuan Li, Li-Chieh Chen, Ellen K. Brundage, Amber N. Pursley, Eric S. Schmitt, Johannes Häberle, Lee-Jun C. Wong,