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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3412178

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

About this item

Full title

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Publisher

London: Nature Publishing Group UK

Journal title

Nature (London), 2011-10, Vol.478 (7367), p.127-131

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Talking antisense:
fukutin
rescue in muscular dystrophy
Fukuyama muscular dystrophy is caused by the insertion of a mobile genetic element, the SVA retrotransposon, into the non-coding region of the
fukutin
gene. Tatsushi Toda and colleagues show that this insertion truncates the fukutin transcript as a result of an abnormal splicing...

Alternative Titles

Full title

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3412178

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3412178

Other Identifiers

ISSN

0028-0836

E-ISSN

1476-4687

DOI

10.1038/nature10456

How to access this item