New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP

PURPOSE: This study aimed to test a newly devised cost-effective multiplex PCR assay for the molecular diagnosis of autosomal dominant retinitis pigmentosa (adRP), as well as the use of whole-exome sequencing (WES) to detect disease-causing mutations in adRP. METHODS: Genomic DNA was extracted from...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Vis
Auteurs principaux: de Sousa Dias, Miguel, Hernan, Imma, Delás, Barbara, Pascual, Beatriz, Borràs, Emma, Gamundi, Maria José, Mañé, Begoña, Fernández-San José, Patricia, Ayuso, Carmen, Carballo, Miguel
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2015
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4539015/
https://ncbi.nlm.nih.gov/pubmed/26321861
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