학술논문

Unraveling genes, mutations in inherited retinal diseases: Variable TULP1 missense mutations in inherited retinal diseases
Document Type
Periodical
Source
Ophthalmology Times. April, 2022, Vol. 47 Issue 4, p32, 1 p.
Subject
Genes -- Genetic aspects
Retinal diseases -- Genetic aspects
Health
Language
English
ISSN
0193-032X
Abstract
Investigators are beginning to crack the 200 genes and thousands of mutations that cause inherited retinal dystrophies, characterized by progressive photoreceptor degeneration and vision loss. Some of these more well-known [...]