Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families | Zendy

Inmaculada Martín-Mérida | Zendy; Domingo AguileraGarcia | Zendy; Patrícia José | Zendy; Fiona BlancoKelly | Zendy; Olga Zurita | Zendy; Berta Almoguera | Zendy; Blanca GarcíaSandoval | Zendy; Almudena ÁvilaFernández | Zendy; Ana ArtecheLópez | Zendy; Pablo Mínguez | Zendy; Miguel Carballo | Zendy; Marta Cortón | Zendy; Carmen Ayuso | Zendy

Open Access

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

Author(s) -

Inmaculada Martín-Mérida,

Domingo AguileraGarcia,

Patrícia José,

Fiona BlancoKelly,

Olga Zurita,

Berta Almoguera,

Blanca GarcíaSandoval,

Almudena ÁvilaFernández,

Ana ArtecheLópez,

Pablo Mínguez,

Miguel Carballo,

Marta Cortón,

Carmen Ayuso

Publication year - 2018

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.18-23854

Subject(s) - retinitis pigmentosa , genetics , missense mutation , copy number variation , biology , disease , gene , medical genetics , mutation , medicine , pathology , genome

To provide a comprehensive overview of the molecular basis of autosomal dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the molecular characterization rate, gene prevalence, and mutational spectrum in the largest European cohort reported to date.

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