Molecular and Biochemical Investigations into VMD2, the gene associated with Best Disease
Best disease (OMIM 153700) is an early-onset, autosomal dominant maculopathy characterized by egg yolk-like lesions in the central retina. The disease gene, the vitelliform macular dystrophy gene type 2 (VMD2), encodes a 585-aa VMD2 transmembrane protein, termed bestrophin. The protein is predominan...
| Main Author: | |
|---|---|
| Format: | Doctoral Thesis |
| Language: | English |
| Published: |
2003
|
| Subjects: | |
| Online Access: | https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/491 http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-5761 https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-5761 https://opus.bibliothek.uni-wuerzburg.de/files/491/Dissertation-Sissi.pdf |