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Article

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

Human genetics - 1 May 2009

Pramono Zacharias Aloysius Dwi, Tan Chin Lai, Seah Irene Ai Lian, See Joseph Shean Long, Kam Siok Yuen, Lai Poh San, Yee Woon Chee

Abstract excerpt

In conducting dysferlin mutational screening using blood mRNA instead of genomic DNA, we identified the occurrence of alternative splicing involving novel dysferlin exons, i.e. exons 5a and 40a, in addition to previously reported alternative splicing of exon 17. Further study employing long range RT-PCR and subcloning revealed a total of fourteen dysferlin transcripts with maintained dysferlin reading frame. The...

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PMID: 19221801
DOI: 10.1007/s00439-009-0632-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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