Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome

BACKGROUND: Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by global developmental delay, epilepsy, hyperkinesis, ataxia, microcephaly, and behavioral disorder. However, the molecular mechanism by which these SLC9A6 mutations cause CS in humans is not entirely under...

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Detalles Bibliográficos
Autores principales: He, Hailan, Zhang, Huiwen, Chen, Hui, He, Fang, Yin, Fei, Stauber, Tobias, Zou, Xiaomin, Peng, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651982/
https://www.ncbi.nlm.nih.gov/pubmed/37381736
http://dx.doi.org/10.1111/cns.14329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651982/
https://www.ncbi.nlm.nih.gov/pubmed/37381736
http://dx.doi.org/10.1111/cns.14329

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