Caricamento...
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expres...
Salvato in:
| Pubblicato in: | Sci Rep |
|---|---|
| Autori principali: | , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2015
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4602186/ https://ncbi.nlm.nih.gov/pubmed/26459573 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep14867 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|