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Article

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.

Journal of human genetics - 1 Jan 2002

Suminaga Ryo, Takeshima Yasuhiro, Adachi Kayo, Yagi Mariko, Nakamura Hajime, Matsuo Masafumi

Abstract excerpt

The dystrophin gene, which is mutated in Duchenne muscular dystrophy, is the largest human gene. A full spectrum of the gene transcripts has not been fully elucidated yet, although two cryptic exons have so far been identified in the 5' region of the dystrophin gene. Here, a novel dystrophin mRNA containing a 62-nucleotide insertion between exons 3 and 4 was identified in lymphocytes from a Japanese Duchenne...

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Identifiers

PMID: 12166656
DOI: 10.1007/s100380200023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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