Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease that affects the development and survival of sensory and autonomic neurons. FD is caused by an mRNA splicing mutation in intron 20 of the IKBKAP gene that results in a tissue-specific skipping of exon 20 and a correspondi...

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Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: Morini, Elisabetta, Dietrich, Paula, Salani, Monica, Downs, Heather M., Wojtkiewicz, Gregory R., Alli, Shanta, Brenner, Anthony, Nilbratt, Mats, LeClair, John W., Oaklander, Anne Louise, Slaugenhaupt, Susan A., Dragatsis, Ioannis
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2016
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Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4764193/
https://ncbi.nlm.nih.gov/pubmed/26769677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv634
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