A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.

CONCLUSIONS: This case is the first report of a SVA insertion in the CHM gene causing choroideremia. PMID: 32441177 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research