Published 2014
| Version v1.0.0
Journal Article
Open
Marinesco-Sjogren Syndrome and SIL1 Mutations
- Creators
- Millichap, J. Gordon
- Millichap, John J.
Abstract
Investigators from Aachen University, Germany, and multiple centers in Europe, UK, USA, Turkey and Argentina, report the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy, the characteristic Marinesco-Sjogren syndrome triad.
Files
PNB-2014-28-2-9.pdf
Files
(108.2 kB)
| Name | Size | Download all |
|---|---|---|
|
md5:31d87b044ad3f4a8f8ca7a58d35b1249
|
108.2 kB | Preview Download |
Additional details
- Other
- PNB-2014-28-2-9
- Created
-
2014When the item was originally created.