Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town
Abstract Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of a...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2021-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |