Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

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Abstract

The aim was to determine the prevalence of PRPF31 mutations in a cohort of Spanish autosomal dominant retinitis pigmentosa (adRP) families to deepen knowledge of the pathogenic mechanisms underlying the disease and to assess genotype-phenotype correlations.

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Journal

Journal ID (iso-abbrev): Invest. Ophthalmol. Vis. Sci.

Title: Investigative ophthalmology & visual science

Publisher: Association for Research in Vision and Ophthalmology (ARVO)

ISSN (Electronic): 1552-5783

ISSN (Print): 0146-0404

Publication date (Electronic): February 01 2017

Volume: 58

Issue: 2

Affiliations

[1 ] Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

[2 ] Universidade de Mogi das Cruzes, São Paulo, Brazil.

[3 ] Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.

[4 ] Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

[5 ] Molecular Genetics Unit, Hospital de Terrassa, Terrassa, Barcelona, Spain.

Article

Publisher Item ID: 2603902

DOI: 10.1167/iovs.16-20515

PubMed ID: 28192796

SO-VID: 48c362e7-7a51-42dd-91c2-83b44488f41e

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