Literature DB >> 7987326

Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.

G Antiñolo1, B Sánchez, S Borrego, T Rueda, P Chaparro, J C Cabeza.   

Abstract

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Year:  1994        PMID： 7987326     DOI： 10.1093/hmg/3.8.1421

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  6 in total

1.  Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Authors:  Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; Susan H Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma P Shankar; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-07       Impact factor: 4.799

2.  Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Authors:  M M Sohocki; S P Daiger; S J Bowne; J A Rodriquez; H Northrup; J R Heckenlively; D G Birch; H Mintz-Hittner; R S Ruiz; R A Lewis; D A Saperstein; L S Sullivan
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

Review 3.  Finding and interpreting genetic variations that are important to ophthalmologists.

Authors:  Edwin M Stone
Journal:  Trans Am Ophthalmol Soc       Date:  2003

4.  In silico Mapping of Protein Unfolding Mutations for Inherited Disease.

Authors:  Caitlyn L McCafferty; Yuri V Sergeev
Journal:  Sci Rep       Date:  2016-12-01       Impact factor: 4.379

5.  Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.

Authors:  Richard McKeone; Matthew Wikstrom; Christina Kiel; P Elizabeth Rakoczy
Journal:  Mol Vis       Date:  2014-02-07       Impact factor: 2.367

6.  Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Authors:  Belén García Bohórquez; Elena Aller; Ana Rodríguez Muñoz; Teresa Jaijo; Gema García García; José M Millán
Journal:  Front Cell Dev Biol       Date:  2021-07-13
  6 in total

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