Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
1998 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.
J Clin Invest. 1993 May;91(5):1884-7. doi: 10.1172/JCI116405.
J Clin Invest. 1993.
PMID: 8486760
Free PMC article.
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A.
Finckh U, et al.
Hum Mutat. 1998;12(3):206-11. doi: 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E.
Hum Mutat. 1998.
PMID: 9711878
Item in Clipboard
Cite
Cite