HUVR - Human - Mutation screening of multiple genes in Spanish s with Autosomal Recessive Retinitis Pigmentosa by targeted Resequencing

ABSTRACT: The goal of this study was to develop and apply microarray-based resequencing technology capable of detecting both known and novel mutations on a single high-throughput platform. Hence, the coding regions and exon/intron boundaries of 16 arRP genes (CERKL, CNGA1, CRB1, EYS, IDH3B, LRAT, MERTK, NR2E3, PDE6B, PRCD, PROM1, RGR, RHO, RLBP1,RPE65 and TULP1) were resequenced using Affymetrix microarrays in 102 Spanish s with clinical diagnosis of arRP. All the detected variations were confirmed by direct sequencing and potential pathogenicity was assessed by functional predictions and frequency in controls.

ORGANISM(S): Homo sapiens

SUBMITTER: María González del Pozo 

PROVIDER: E-MTAB-786 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress