Literature DB >> 9452113

Rhodopsin splice site sequence changes in retinitis pigmentosa and their effect at the mRNA level.

J L Whitehead1, C Bell, C A Converse, H M Hammer, N E Haites.   

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Year:  1998        PMID： 9452113     DOI： 10.1002/humu.1380110192

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


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  3 in total

1.  Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

Authors:  María González-del Pozo; Cristina Méndez-Vidal; Nereida Bravo-Gil; Alicia Vela-Boza; Joaquin Dopazo; Salud Borrego; Guillermo Antiñolo
Journal:  PLoS One       Date:  2014-12-29       Impact factor: 3.240

2.  Transcript isoforms of Reep6 have distinct functions in the retina.

Authors:  Qingnan Liang; Nathaniel Wu; Smriti Zaneveld; Hehe Liu; Shangyi Fu; Keqing Wang; Renae Bertrand; Jun Wang; Yumei Li; Rui Chen
Journal:  Hum Mol Genet       Date:  2021-10-13       Impact factor: 5.121

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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