Resum
Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2, is an autosomal dominant disease that causes loss of vision. The causative gene encodes a 585 amino acids protein called bestrophin with unknown function. From bioinformatics analysis, a putative ion exchanger function for bestrophin can be suggested. © 2001 OPA (Overseas Publishers Association) N.V.
| Idioma original | Anglès |
|---|---|
| Pàgines (de-a) | 431-435 |
| Revista | Mitochondrial DNA |
| Volum | 12 |
| DOIs | |
| Estat de la publicació | Publicada - 1 de des. 2001 |