Article

The role of alternative splicing in CEP290-related disease pathogenesis

2022-03-04

Abstract excerpt

Primary ciliopathies are a group of inherited developmental disorders resulting from defects in the primary cilium. Mutations in CEP290 (Centrosomal protein of 290kDa) are the most frequent cause of recessive ciliopathies (incidence up to 1:15,000). Pathogenic variants span the full length of this large (93.2kb) 54 exon gene, causing phenotypes ranging from isolated inherited retinal dystrophies (IRDs; Leber Conge...

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Literature Corpus work: cf03b7b3-e35d-5d5a-9a0f-430e78c40a45
DOI: 10.1101/2022.03.03.22271834

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