An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers-Reference-Cited by-同舟云学术

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers

Published:2019-09-03 Issue:5 Volume:40 Page:443-448
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kimchi Adva¹²,Meiner Vardiella²,Silverstein Shira²,Macarov Michal¹²,Mor-Shaked Hagar²,Blumenfeld Anat¹,Audo Isabelle³⁴⁵,Zeitz Christina³,Mechoulam Hadas¹,Banin Eyal¹,Sharon Dror¹,Yahalom Claudia¹

Affiliation:

1. Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

2. Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

3. Institut de la vision, Sorbonne Université, INSERM, Paris, France

4. CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS, Paris, France

5. Institute of Ophthalmology, University College of London, London, UK

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1681008

Reference29 articles.

1. A NovelCACNA1FGene Mutation Causes Åland Island Eye Disease

2. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

3. Congenital Stationary Night Blindness

4. Congenital Stationary Night Blindness With Negative Electroretinogram

5. ISCEV Standard for full-field clinical electroretinography (2015 update)

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