A carregar...
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
PURPOSE: To identify the gene causing a severe form of progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease and to characterize clinical features in a large American family. METHODS: We characterized an American family who had an unusual retinal dystrophy with clinical...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2009
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2665199/ https://ncbi.nlm.nih.gov/pubmed/19352439 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|