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Article

Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.

American journal of human genetics - 1 Nov 2003

Gorlov Ivan P, Gorlova Olga Y, Frazier Marsha L, Amos Christopher I

Abstract excerpt

There is a critical need to understand why missense mutations are deleterious. The deleterious effects of missense mutations are commonly attributed to their impact on primary amino acid sequence and protein structure. However, several recent studies have shown that some missense mutations are deleterious because they disturb cis-acting splicing elements-so-called "exonic splicing enhancers" (ESEs). It is not...

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Identifiers

PMID: 14526391
DOI: 10.1086/378819
PMCID: PMC1180494

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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