Cargando...
Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing
Infantile nystagmus (IN) is a genetically heterogeneous disorder arising from variants of genes expressed within the developing retina and brain. IN presents a diagnostic challenge and patients often undergo numerous investigations. We aimed to develop and assess the utility of a next-generation seq...
Gardado en:
| Publicado en: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group
2017
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5477371/ https://ncbi.nlm.nih.gov/pubmed/28378818 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.44 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|