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 of ATP1A1...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-04-01T00:00:00Z.
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