Loading...
Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
BACKGROUND: Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic variations related to RP remain unidentified in many patient...
Na minha lista:
| Udgivet i: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley and Sons Inc.
2020
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7767543/ https://ncbi.nlm.nih.gov/pubmed/33085829 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1537 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|