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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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Detalles Bibliográficos
Autores principales: Boone, Nathalie, Loriod, Béatrice, Bergon, Aurélie, Sbai, Oualid, Formisano-Tréziny, Christine, Gabert, Jean, Khrestchatisky, Michel, Nguyen, Catherine, Féron, François, Axelrod, Felicia B., Ibrahim, El Chérif
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004942/
https://www.ncbi.nlm.nih.gov/pubmed/21187979
http://dx.doi.org/10.1371/journal.pone.0015590