Novel CNGA3 mutations in Chinese patients with achromatopsia.

CONCLUSIONS: CNGA3 mutation is the most frequent cause of ACHM in this cohort of patients. Ten novel mutations were identified in CNGA3. Genetic characterisation of patients with ACHM is important for genetic counselling and future gene therapies. This study reports the comprehensive clinical and genetic features of Chinese patients with ACHM. PMID: 25637600 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/25637600?dopt=Abstract

Source: The British Journal of Ophthalmology - January 30, 2015 Category: Opthalmology Authors: Liang X, Dong F, Li H, Li H, Yang L, Sui R Tags: Br J Ophthalmol Source Type: research