A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping

Waldock WJ., Taylor LJ., Sperring S., Staurenghi F., Martinez-Fernandez de la Camara C., Whitfield J., Clouston P., Yusuf IH., MacLaren RE.

DOI

10.1080/13816810.2023.2270554

Type

Journal article

Journal

Ophthalmic Genetics

Publisher

Informa UK Limited

Publication Date

03/03/2024

Volume

45

Pages

210 - 217

Permalink Original publication