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Article

Minor spliceosome and disease.

Seminars in cell & developmental biology - 1 Jul 2018

Verma Bhupendra, Akinyi Maureen V, Norppa Antto J, Frilander Mikko J

Abstract excerpt

The U12-dependent (minor) spliceosome excises a rare group of introns that are characterized by a highly conserved 5' splice site and branch point sequence. Several new congenital or somatic diseases have recently been associated with mutations in components of the minor spliceosome. A common theme in these diseases is the detection of elevated levels of transcripts containing U12-type introns, of which a subset...

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Identifiers

PMID: 28965864
DOI: 10.1016/j.semcdb.2017.09.036

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