Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness
Author:
Funder
Ministero della Salute
Publisher
Elsevier BV
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference26 articles.
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1. Identification of a novel large multigene deletion and a frameshift indel inPDE6Bas the underlying cause of early-onset recessive rod–cone degeneration;Molecular Case Studies;2022-11-14
2. Identification of a novel CACNA1F mutation in a Chinese family with CORDX3;Molecular Genetics & Genomic Medicine;2022-09-27
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