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Novel molecular mechanisms for Prph2-associated pattern dystrophy
Mutations in peripherin 2 (PRPH2) have been associated with retinitis pigmentosa (RP) and macular/pattern dystrophies, but the origin of this phenotypic variability is unclear. The majority of Prph2 mutations are located in the large intradiscal loop (D2), a region that contains seven cysteines invo...
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| Publicado no: | FASEB J |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7592630/ https://ncbi.nlm.nih.gov/pubmed/31914632 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.201901888R |
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