Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

da Palma, MM; Motta, FL; Gomes, CP; Salles, MV; Pesquero, JB; Sallum, JMF

Sallum, JMF (corresponding author), Rua Botucatu 822, Sao Paulo, Brazil.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020; 61 (2):

Abstract

PURPOSE. Choroideremia is an inherited retinal degeneration caused by 280 different pathogenic variants in the CHM gene. Only one silent/synonymous va......

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