Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Details
| Original language | English |
|---|---|
| Pages (from-to) | 1049-1055 |
| Number of pages | 7 |
| Journal | European Journal of Pediatrics |
| Volume | 167 |
| Issue number | 9 |
| Publication status | Published - Jan 2008 |
| Peer-reviewed | Yes |
External IDs
| Scopus | 48149094751 |
|---|---|
| ORCID | /0000-0002-9407-1410/work/90094101 |
| PubMed | 18172684 |