Mutations in SEPT9 cause hereditary neuralgic amyotrophy

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Gregor Kuhlenbäumer1, Mark C Hannibal, Eva Nelis

  • 1Department of Neurology, University of Münster, Domagkstr. 3, D-48149 Münster, Germany. gkuhlen@uni-muenster.de

Nature Genetics
|September 28, 2005
PubMed

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Mutations01:39

Mutations

Overview
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...