Mutations in AGBL5 associated with Retinitis pigmentosa
Diego I. Paredes, Nicholas R. Bello, Jenina E. Capasso, Rebecca Procopio, Alex V. Levin | Ophthalmic Genetics | 45(3) | 275-280 |...
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- Dec 13, 2016
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing
ABGL5 is one of the genes reported as a candidate for recessive retinal degeneration. Potentially deleterious variants in AGBL5 have . . .
- Nov 30, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa
This study performed next-generation sequencing to reveal additional RP cases with AGBL5 variants, including protein-truncating variants.
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