ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease

Peripherin 2 (PRPH2) is a retina-specific tetraspanin protein essential for the formation of rod and cone photoreceptor outer segments (OS). Patients with mutations in PRPH2 exhibit severe retinal degeneration characterized by vast inter- and intra-familial phenotypic heterogeneity. To help understa...

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Bibliografische gegevens
Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: Strayve, Daniel, Makia, Mustafa S, Kakakhel, Mashal, Sakthivel, Haarthi, Conley, Shannon M, Al-Ubaidi, Muayyad R, Naash, Muna I
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2020
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General Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7530533/
https://ncbi.nlm.nih.gov/pubmed/32716032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa160
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