ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads to variable skipping of exon 20 and to a drastic reduction of ELP1 in the nervous system. Clinically, many of the debilitat...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Am J Hum Genet
Main Authors: Morini, Elisabetta, Gao, Dadi, Montgomery, Connor M., Salani, Monica, Mazzasette, Chiara, Krussig, Tobias A., Swain, Brooke, Dietrich, Paula, Narasimhan, Jana, Gabbeta, Vijayalakshmi, Dakka, Amal, Hedrick, Jean, Zhao, Xin, Weetall, Marla, Naryshkin, Nikolai A., Wojtkiewicz, Gregory G., Ko, Chien-Ping, Talkowski, Michael E., Dragatsis, Ioannis, Slaugenhaupt, Susan A.
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2019
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6451698/
https://ncbi.nlm.nih.gov/pubmed/30905397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.02.009
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