Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia.

BACKGROUND: Familial dysautonomia (FD) is a hereditary neuropathy caused by mutations in the IKBKAP gene, the most common of which results in variable tissue-specific mRNA splicing with skipping of exon 20. Defective splicing is especially severe in nervous tissue, leading to incomplete development...

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Main Authors: Nathalie Boone, Béatrice Loriod, Aurélie Bergon, Oualid Sbai, Christine Formisano-Tréziny, Jean Gabert, Michel Khrestchatisky, Catherine Nguyen, François Féron, Felicia B Axelrod, El Chérif Ibrahim
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3004942?pdf=render