Literature DB >> 8829640

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

B Sánchez1, S Borrego, P Chaparro, T Rueda, F López, G Antiñolo.   

Abstract

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Year:  1996        PMID： 8829640     DOI： 10.1002/humu.1380070202

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.

Authors:  Ramon Roman-Sanchez; Theodore G Wensel; John H Wilson
Journal:  Exp Eye Res       Date:  2015-09-26       Impact factor: 3.467

2.  Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Authors:  Qi Zhang; Mingchu Xu; Jennifer D Verriotto; Yumei Li; Hui Wang; Lin Gan; Byron L Lam; Rui Chen
Journal:  Sci Rep       Date:  2016-09-06       Impact factor: 4.379

3.  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.

Authors:  Miguel de Sousa Dias; Imma Hernan; Barbara Delás; Beatriz Pascual; Emma Borràs; Maria José Gamundi; Begoña Mañé; Patricia Fernández-San José; Carmen Ayuso; Miguel Carballo
Journal:  Mol Vis       Date:  2015-08-18       Impact factor: 2.367
  3 in total

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