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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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| Опубликовано в: : | J Clin Invest |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Clinical Investigation
2020
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| Предметы: | |
| Online-ссылка: | 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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