A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.

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作者信息

Sánchez B, Borrego S, Chaparro P, Rueda T, López F, Antiñolo G

机构信息

Unidad de Genética Médica, Hospital Universitario Virgen del Rocío, Sevilla, Spain.

出版信息

Hum Mutat. 1996;7(2):180. doi: 10.1002/humu.1380070202.

DOI:10.1002/humu.1380070202

PMID:8829640

Abstract

摘要

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Invest Ophthalmol Vis Sci. 2025 Jul 1;66(9):69. doi: 10.1167/iovs.66.9.69.

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.基于下一代测序的 35 名西班牙裔色素性视网膜炎先证者的分子诊断。

Sci Rep. 2016 Sep 6;6:32792. doi: 10.1038/srep32792.

Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.视紫红质基因中的无义突变会导致轻度表型，通过无义介导的衰变在人类细胞中引发mRNA降解。

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New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.通过全外显子组测序检测到的新COL6A6变异与内含子4和3'-UTR中的断点相关，导致RHO基因外显子5缺失，进而引发常染色体显性视网膜色素变性（adRP）。

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