Effects of IKAP/hELP1 Deficiency on Gene Expression in Differentiating Neuroblastoma Cells: Implications for Familial Dysautonomia

Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems. The IKBKAP gene, encoding the IKAP/hELP1 subunit of the RNA polymerase II Elongator complex is mutated in FD patients, leading to a tissue-specific mis-splicing of the gene and to the absence of t...

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Detalles Bibliográficos
Autores principales: Cohen-Kupiec, Rachel, Pasmanik-Chor, Metsada, Oron-Karni, Varda, Weil, Miguel
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084765/
https://www.ncbi.nlm.nih.gov/pubmed/21559466
http://dx.doi.org/10.1371/journal.pone.0019147

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