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Article

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.

International journal of molecular sciences - 31 Jan 2023

Bodenbender Jan-Philipp, Marino Valerio, Bethge Leon, Stingl Katarina, Haack Tobias B, Biskup Saskia, Kohl Susanne, Kühlewein Laura, Dell'Orco Daniele, Weisschuh Nicole

Abstract excerpt

Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in TULP1. All patients underwent thorough ophthalmological examinations. Minigene assays and structural analyses were performed to assess the consequences of splice variants and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36769033
DOI: 10.3390/ijms24032709
PMCID: PMC9916573

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