Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants

Mutations in the photoreceptor outer segment (OS) specific peripherin-2 lead to autosomal dominant retinitis pigmentosa (adRP). By contrast, mutations in the peripherin-2 homolog Rom-1 cause digenic RP in combination with certain heterozygous mutations in peripherin-2. The mechanisms underlying the...

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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Böhm, Sybille, Riedmayr, Lisa M., Nguyen, O. N. Phuong, Gießl, Andreas, Liebscher, Toni, Butz, Elisabeth S., Schön, Christian, Michalakis, Stylianos, Wahl-Schott, Christian, Biel, Martin, Becirovic, Elvir
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5443838/
https://ncbi.nlm.nih.gov/pubmed/28539581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02514-5
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