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A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44...

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1560118684

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

About this item

Full title

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2014-08, Vol.59 (8), p.423-429

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Duchenne muscular dystrophy (DMD), a progressive muscle-wasting disease, is mostly caused by exon deletion mutations in the DMD gene. The reading frame rule explains that out-of-frame deletions lead to muscle dystrophin deficiency in DMD. In outliers to this rule, deletion junction sequences have never previously been explored as splicing modulator...

Alternative Titles

Full title

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1560118684

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1560118684

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/jhg.2014.36

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