Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa | Zendy

Galuh Astuti | Zendy; Gavin Arno | Zendy; Sarah Hull | Zendy; Laurence Pierrache | Zendy; Hanka Venselaar | Zendy; Keren Carss | Zendy; F. Lucy Raymond | Zendy; Rob W.J. Collin | Zendy; Sultana MH Faradz | Zendy; L. Ingeborgh van den Born | Zendy; Andrew R. Webster | Zendy; Frans P.M. Cremers | Zendy

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Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Author(s) -

Galuh Astuti,

Gavin Arno,

Sarah Hull,

Laurence Pierrache,

Hanka Venselaar,

Keren Carss,

F. Lucy Raymond,

Rob W.J. Collin,

Sultana MH Faradz,

L. Ingeborgh van den Born,

Andrew R. Webster,

Frans P.M. Cremers

Publication year - 2016

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-20148

Subject(s) - retinitis pigmentosa , genetics , biology , mutation , gene

AGBL5, encoding ATP/GTP binding protein-like 5, was previously proposed as an autosomal recessive retinitis pigmentosa (arRP) candidate gene based on the identification of missense variants in two families. In this study, we performed next-generation sequencing to reveal additional RP cases with AGBL5 variants, including protein-truncating variants.

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