We report the dihydropteridine reductase (DHPR) activity in cases with interstitial deletion of the short arm of chromosome 4. Case 1 with the segment 4p15.32-4p16 deleted has normal DHPR activity. Case 2 with 4p15.2-4p15.32 deleted has reduced DHPR activity, less than 50% of normal.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1620/tjem.160.93 | DOI Listing |
Publication Analysis
Top Keywords
dhpr activity
12
dihydropteridine reductase
8
probable assignment
4
assignment dihydropteridine
4
reductase gene
4
gene 4p1531
4
4p1531 report
4
report dihydropteridine
4
reductase dhpr
4
activity cases
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!