Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium.
Fiorentino A, et al. Among authors: michaelides m.
Mol Vis. 2018 Aug 31;24:603-612. eCollection 2018.
Mol Vis. 2018.
PMID: 30210231
Free PMC article.