ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features

Background: ATP1A1 encodes an α1 isoform of Na(+)/K(+)-ATPase, which is expressed abundantly in kidneys and central nervous system. ATP1A1 variants may cause Na(+)/K(+)-ATPase loss of function and lead to a wide spectrum of phenotypes. This study aims to summarize the clinical and genetic features o...

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Detalles Bibliográficos
Autores principales: Lin, Zehong, Li, Jinliang, Ji, Taoyun, Wu, Ye, Gao, Kai, Jiang, Yuwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8098805/
https://www.ncbi.nlm.nih.gov/pubmed/33968856
http://dx.doi.org/10.3389/fped.2021.657256

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8098805/
https://www.ncbi.nlm.nih.gov/pubmed/33968856
http://dx.doi.org/10.3389/fped.2021.657256

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