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Article

Alternative splicing and disease.

RNA biology - 1 Jan 2000

Kim Eddo, Goren Amir, Ast Gil

Abstract excerpt

Splicing is a molecular mechanism, by which introns are removed from an mRNA precursor and exons are ligated to form a mature mRNA. Mutations that cause defects in the splicing mechanism are known to be responsible for many diseases, including cystic fibrosis and familial dysautonomia. If mutatio...

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Identifiers

PMID: 18388487
DOI: 10.4161/rna.5.1.5944

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18388487-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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