Olfactory Stem Cells, a New Cellular Model for Studying Molecular Mechanisms Underlying Familial Dysautonomia

Abstract

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 and progressive degeneration of sensory and autonomic… (More)
DOI: 10.1371/journal.pone.0015590

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Cite this paper

@inproceedings{Boone2010OlfactorySC, title={Olfactory Stem Cells, a New Cellular Model for Studying Molecular Mechanisms Underlying Familial Dysautonomia}, author={Nathalie Boone and B{\'e}atrice Loriod and Aur{\'e}lie Bergon and Oualid Sbai and Christine Formisano-Tr{\'e}ziny and Jean Gabert and Michel Khrestchatisky and Catherine Nguyen and François F{\'e}ron and Felicia B. Axelrod and El Ch{\'e}rif Ibrahim}, booktitle={PloS one}, year={2010} }