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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Bibliographische Detailangaben
Veröffentlicht in:FASEB J
Hauptverfasser: Chakraborty, Dibyendu, Strayve, Daniel G., Makia, Mustafa S., Conley, Shannon M., Kakahel, Mashal, Al-Ubaidi, Muayyad R., Naash, Muna I.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2019
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Article
Online Zugang: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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