Mutations in the X-Linked Retinitis Pigmentosa GenesRPGRandRP2Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa | Zendy

Jennifer D. Churchill | Zendy; Sara J. Bowne | Zendy; Lori S. Sullivan | Zendy; Richard A. Lewis | Zendy; Dianna K. Wheaton | Zendy; David G. Birch | Zendy; Kari Branham | Zendy; John R. Heckenlively | Zendy; Stephen P. Daiger | Zendy

Open Access

Mutations in the X-Linked Retinitis Pigmentosa GenesRPGRandRP2Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Author(s) -

Jennifer D. Churchill,

Sara J. Bowne,

Lori S. Sullivan,

Richard A. Lewis,

Dianna K. Wheaton,

David G. Birch,

Kari Branham,

John R. Heckenlively,

Stephen P. Daiger

Publication year - 2013

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.12-11541

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

We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene.

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