Ontology highlight
ABSTRACT:
SUBMITTER: Estrada-Cuzcano A
PROVIDER: S-EPMC3257957 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Estrada-Cuzcano Alejandro A Neveling Kornelia K Kohl Susanne S Banin Eyal E Rotenstreich Ygal Y Sharon Dror D Falik-Zaccai Tzipora C TC Hipp Stephanie S Roepman Ronald R Wissinger Bernd B Letteboer Stef J F SJ Mans Dorus A DA Blokland Ellen A W EA Kwint Michael P MP Gijsen Sabine J SJ van Huet Ramon A C RA Collin Rob W J RW Scheffer H H Veltman Joris A JA Zrenner Eberhart E den Hollander Anneke I AI Klevering B Jeroen BJ Cremers Frans P M FP
American journal of human genetics 20111215 1
Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb. Next-generation sequencing of all exons, flanking intron sequences, microRNAs, and other highly conserved genomic elements in these three regions revealed a homozygous nonsense mu ...[more]