Wird geladen...
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
FLVCR1 (feline leukaemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here we describe...
Gespeichert in:
| Veröffentlicht in: | Ophthalmic Genet |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5841564/ https://ncbi.nlm.nih.gov/pubmed/29192808 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2017.1408848 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|