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SCNN1A, VAL114ILE

 
National Institutes of Health

Papers overview

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2013
2013
We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c… Expand
2002
2002
The SCNNIA gene, which is located on human chromosome 12p13.3, encodes the alpha subunit of the amiloride-sensitive epithelial… Expand