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Article

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

Human mutation - 1 Apr 2011

Khelifi Mouna Messaoud, Ishmukhametova Aliya, Khau Van Kien Philippe, Thorel Delphine, Méchin Déborah, Perelman Serge, Pouget Jean, Claustres Mireille, Tuffery-Giraud Sylvie

Abstract excerpt

We report on two unprecedented cases of pseudoexon (PE) activation in the DMD gene resulting from pure intronic double-deletion events that possibly involve microhomology-mediated mechanisms. Array comparative genomic hybridization analysis and direct genomic sequencing allowed us to elucidate th...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Source

Identifiers

PMID: 21305657
DOI: 10.1002/humu.21471

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21305657-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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