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Retrograde nerve growth factor signaling abnormalities in familial dysautonomia

Familial dysautonomia (FD) is the most prevalent form of hereditary sensory and autonomic neuropathy (HSAN). In FD, a germline mutation in the Elp1 gene leads to Elp1 protein decrease that causes sympathetic neuron death and sympathetic nervous system dysfunction (dysautonomia). Elp1 is best known a...

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Bibliografski detalji
Izdano u:J Clin Invest
Glavni autori: Li, Lin, Gruner, Katherine, Tourtellotte, Warren G.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7190980/
https://ncbi.nlm.nih.gov/pubmed/32281946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI130401
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