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

Abstract 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 underl...

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Autores principales: Sybille Böhm, Lisa M. Riedmayr, O. N. Phuong Nguyen, Andreas Gießl, Toni Liebscher, Elisabeth S. Butz, Christian Schön, Stylianos Michalakis, Christian Wahl-Schott, Martin Biel, Elvir Becirovic
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/acb4d448cca04ab194bf7dd125b6ec15
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