A carregar...
A novel RPE65 hypomorph expands the clinical phenotype of RPE65 mutations. A comprehensive clinical and biochemical functional study
PURPOSE: Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. We correlate the functional consequences of the novel P25L RPE65 mutation with its early childhood phenotype and compare it with other pathogenic missense mutations. METHODS: In addition to typical cl...
Na minha lista:
| Publicado no: | Invest Ophthalmol Vis Sci |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5015590/ https://ncbi.nlm.nih.gov/pubmed/18599565 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.07-1671 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|