Cargando...
A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report
BACKGROUND: Cone-rod dystrophy (CORD) is an inherited, progressive retinal disorder with genetic and phenotypic heterogeneity. Here, we aimed to identify the pathogenic mutation in affected individuals in a Chinese family with autosomal dominant cone-rod dystrophy (adCORD). METHODS: Genomic DNA and...
Gardado en:
| Publicado en: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wolters Kluwer Health
2018
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6133598/ https://ncbi.nlm.nih.gov/pubmed/30095615 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000011499 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|