A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report
BackgroundType III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb. CLC-Kb is mainly located in the thick ascending limb of Henle's loop and regulates chloride efflux from tubular epithelial ce...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-04-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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