Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

<p><strong>Purpose:</strong> Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. In this study, we performed nex...

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Hlavní autoři:	Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, K, Raymond, F, Cheetham, M, Webster, A, Downes, S, Hardcastle, A, NIHR-BioResource Rare Diseases Consortium, UK Inherited Retinal Dystrophy Consortium
Médium:	Journal article
Jazyk:	English
Vydáno:	Molecular Vision 2018

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

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