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SCNN1A gene

Known as: SODIUM CHANNEL, EPITHELIAL, ALPHA SUBUNIT, SCNEA, SCNN1A 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
A novel SCNN1G mutation in a PHA I infant patient correlates with nephropathy.
2016
2016
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis
Despite extensive screening, 1–5% of cystic fibrosis (CF) patients lack a definite molecular diagnosis. Next-generation… 
2015
2015
A novel frameshift mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case
Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to mutations in the genes encoding β and… 
2013
2013
Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone… 
2013
2013
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1
Abstract Systemic pseudohypoaldosteronism type 1 (PHA1) is characterized by excessive salt loss from the renal tubulus, colon… 
2013
2013
A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene
2010
2010
[Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese].
OBJECTIVE To screen the mutation of the beta and gamma subunits of epithelial sodium channel gene SCNN1 in two families with… 
2007
2007
A novel epithelial sodium channel γ‐subunit de novo frameshift mutation leads to Liddle syndrome
Objective  Liddle syndrome is a rare autosomal‐dominant monogenic form of hypertension caused by mutations in the C‐termini of… 
1994
1994
SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12.
SCNN1, a gene encoding a nonvoltage-gated sodium channel, was detected using a rat colon cDNA probe with homology to… 
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