Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa | Zendy

Lori S. Sullivan | Zendy; Sara J. Bowne | Zendy; Melissa Reeves | Zendy; Delphine Blain | Zendy; Kerry Goetz | Zendy; Vida Ndifor | Zendy; Sally F. Vitez | Zendy; Xinjing Wang | Zendy; Santa J. Tumminia | Zendy; Stephen P. Daiger | Zendy

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Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Author(s) -

Lori S. Sullivan,

Sara J. Bowne,

Melissa Reeves,

Delphine Blain,

Kerry Goetz,

Vida Ndifor,

Sally F. Vitez,

Xinjing Wang,

Santa J. Tumminia,

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.13-12605

Subject(s) - retinitis pigmentosa , proband , genetics , biology , gene , genotyping , mutation , disease , genotype , medicine , pathology

To screen samples from patients with presumed autosomal dominant retinitis pigmentosa (adRP) for mutations in 12 disease genes as a contribution to the research and treatment goals of the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE).

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