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Article

Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

Clinica chimica acta; international journal of clinical chemistry - 25 Sept 2014

Di Resta Chiara, Manzoni Martina, Berisso Massimo Zoni, Siciliano Gabriele, Benedetti Sara, Ferrari Maurizio

Abstract excerpt

BACKGROUND: Pre-mRNA splicing defects may have an important impact on clinical phenotype in several diseases, but often their pathogenic role is difficult to demonstrate. The aim of this study was to validate an in vitro method to assess the effects of putative splicing variants. MATERIALS AND METHODS: We studied three novel variants in vitro using a novel minigene approach and compared results with in silico and...

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Source

Identifiers

PMID: 24915601
DOI: 10.1016/j.cca.2014.05.026

Genes

LMNA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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