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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...
Gorde:
| Argitaratua izan da: | Mol Genet Genomic Med |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2020
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| Gaiak: | |
| Sarrera elektronikoa: | 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 |
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