Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus11The authors have no proprietary interest in any of the materials used in this study.-Reference-Cited by-同舟云学术

Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus11The authors have no proprietary interest in any of the materials used in this study.

Published:2001-08 Issue:8 Volume:108 Page:1479-1484
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Driessen Carola A.G.G,Janssen Bert P.M,Winkens Huub J,Kuhlmann Leonoor D,Van Vugt Anke H.M,Pinckers Alfred J.L.G,Deutman August F,Janssen Jacques J.M

Publisher

Elsevier BV

Subject

Ophthalmology

Reference27 articles.

1. Resolution of night blindness in fundus albipunctatus;Kranias;Ann Ophthalmol,1981

2. Fundus albipunctatus;Marmor;Doc Ophthalmol,1977

3. The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases;Simon;J Biol Chem,1995

4. Cloning and expression of a cDNA encoding bovine retinal pigment epithelial 11-cis retinol dehydrogenase;Driessen;Invest Ophthalmol Vis Sci,1995

5. Enzymes and proteins of the mammalian visual cycle;Saari;Prog Retinal Res,1990

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy;Case Reports in Genetics;2022-04-06

2. Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus;BMC Ophthalmology;2022-02-11

3. Congenital Stationary Night Blindness;Inherited Retinal Disease;2022

4. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family;Genes & Genomics;2018-02-03

5. Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus;Scientific Reports;2017-04-10