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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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-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Rachel Cohen-Kupiec, Metsada Pasmanik-Chor, Varda Oron-Karni, Miguel Weil
Формат: Artigo
Хэл сонгох:Inglês
Хэвлэсэн: Public Library of Science (PLoS) 2011-04-01
Цуврал:PLoS ONE
Онлайн хандалт:http://europepmc.org/articles/PMC3084765?pdf=render
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