Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splicing at NAGNAG tandem splice sites has been reported to resu...

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Bibliographic Details
Main Authors: Alexandre Hinzpeter, Abdel Aissat, Elvira Sondo, Catherine Costa, Nicole Arous, Christine Gameiro, Natacha Martin, Agathe Tarze, Laurence Weiss, Alix de Becdelièvre, Bruno Costes, Michel Goossens, Luis J Galietta, Emmanuelle Girodon, Pascale Fanen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-10-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2951375?pdf=render

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http://europepmc.org/articles/PMC2951375?pdf=render

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