Ładuje się......
The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS
Leber congenital amaurosis (LCA) is a group of severe congenital retinal diseases. Variants in the guanylate cyclase 2D gene (GUCY2D), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%–21% of all LCA cases. In this study, one family with LCA1 was recruited from...
Zapisane w:
| Wydane w: | PLoS One |
|---|---|
| Główni autorzy: | , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Public Library of Science
2020
|
| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7138296/ https://ncbi.nlm.nih.gov/pubmed/32255808 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0231115 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|