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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| 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 |