TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations-Reference-Cited by-同舟云学术

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Published:2019-08-19 Issue:1 Volume:9 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

AlTalbishi Alaa,Zelinger Lina,Zeitz Christina^ORCID,Hendler Karen,Namburi Prasanthi,Audo Isabelle,Sheffer Ruth,Yahalom Claudia,Khateb Samer,Banin Eyal,Sharon Dror

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-019-46811-7.pdf

Reference31 articles.

1. Zeitz, C., Robson, A. G. & Audo, I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Progress in retinal and eye research 45, 58–110, https://doi.org/10.1016/j.preteyeres.2014.09.001 (2015).

2. Schubert, G. & Bornschein, H. Analysis of the human electroretinogram. Ophthalmologica. Journal international d’ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 123, 396–413, https://doi.org/10.1159/000301211 (1952).

3. Riggs, L. A. Electroretinography in cases of night blindness. American journal of ophthalmology 38, 70–78 (1954).

4. Sandberg, M. A. et al. Rod and cone function in the Nougaret form of stationary night blindness. Archives of ophthalmology 116, 867–872 (1998).

5. Zeitz, C. et al. Mutations in CABP4, the gene encoding the Ca2+ -binding protein 4, cause autosomal recessive night blindness. American journal of human genetics 79, 657–667, https://doi.org/10.1086/508067 (2006).

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