Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

BACKGROUND: FINCA disease is a pediatric cerebropulmonary disease caused by variants in the NHL repeat-containing 2 (NHLRC2) gene. Neurological symptoms are among the first manifestations of FINCA disease, but the consequences of NHLRC2 deficiency in the central nervous system are currently unexplor...

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Detalles Bibliográficos
Autores principales: Hiltunen, Anniina E., Kangas, Salla M., Ohlmeier, Steffen, Pietilä, Ilkka, Hiltunen, Jori, Tanila, Heikki, McKerlie, Colin, Govindan, Subashika, Tuominen, Hannu, Kaarteenaho, Riitta, Hallman, Mikko, Uusimaa, Johanna, Hinttala, Reetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724728/
https://www.ncbi.nlm.nih.gov/pubmed/33297935
http://dx.doi.org/10.1186/s10020-020-00245-4

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