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Keywords: IKBKAP
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Journal Articles

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

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Marisa Z. Jackson, Katherine A. Gruner, Charles Qin, Warren G. Tourtellotte
Journal: Development
Development (2014) 141 (12): 2452–2461.
https://doi.org/10.1242/dev.107797
Published: 15 June 2014
...Marisa Z. Jackson; Katherine A. Gruner; Charles Qin; Warren G. Tourtellotte Familial dysautonomia (FD) is characterized by severe and progressive sympathetic and sensory neuron loss caused by a highly conserved germline point mutation of the human ELP1 / IKBKAP gene. Elp1 is a subunit of the hetero...
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Includes: Supplementary data