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Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Portuguese Scientific Production: Volume indicators
Courtney Carreira +3 more
openalex +1 more source
The Scientific production in periodic institucional: Study of the journail Biblos
João José Custódio da; Tribunal de Justiça do Estado de São Paulo. São José dos Campos - SP Silveira
openalex +1 more source
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