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Article

Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.

Human genetics - 1 Oct 2006

Pramono Zacharias Aloysius Dwi, Lai Poh San, Tan Chin Lai, Takeda Shin'ichi, Yee Woon Chee

Abstract excerpt

Mutations in the dysferlin (DYSF) gene are associated with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. In this study, we report the identification and characterization of a novel dysferlin transcript that we named DYSF_v1 (GenBank accession: DQ267935). This transcript differs from the currently known dysferlin transcript (GenBank accession: AF075575) in the sequence of the entire first exon which...

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Source

Identifiers

PMID: 16896923
DOI: 10.1007/s00439-006-0230-1

Genes

DYSF

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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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