Found: 4
Select item for more details and to access through your institution.
Brittle cornea syndrome: recognition, molecular diagnosis and management.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-68
- By:
- Publication type:
- Article
Brittle cornea syndrome: recognition, molecular diagnosis and management.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.251
- By:
- Publication type:
- Article
The VMD2 mutation R141H, which is associated with Best disease and other macular dystrophies, causes decreased Cl<sup>-</sup> channel activity.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A541, doi. 10.1096/fasebj.21.5.a541-a
- By:
- Publication type:
- Article