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Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family

Authors :
Jason Charng
Enid Chelva
Jennifer A. Thompson
Terri L. McLaren
Ian J. Constable
Juanita Pappalardo
Rachael C. Heath Jeffery
Fred K. Chen
Tina M. Lamey
John N. De Roach
Source :
Ophthalmic Genetics. 42:62-70
Publication Year :
2020
Publisher :
Informa UK Limited, 2020.

Abstract

Heterozygous c.440 G > T mutation in the S-antigen visual arrestin (SAG) gene has been described as a cause of autosomal dominant retinitis pigmentosa (adRP) in a series of patients of Hispanic ori...

Details

ISSN :
17445094 and 13816810
Volume :
42
Database :
OpenAIRE
Journal :
Ophthalmic Genetics
Accession number :
edsair.doi...........0a677d1d5ba66ed7d8aaa39cd44e5346