Keyphrases
Autosomal Recessive
100%
Novel mutation
100%
Hyperaldosteronism
100%
SCN1A Gene
100%
Epithelial Sodium Channel (ENaC)
66%
Mineralocorticoid Receptor
33%
Pulmonary Symptoms
33%
On-state Current
16%
Affected children
16%
Cystic Fibrosis
16%
Coding Exons
16%
Neonatal Period
16%
Truncation
16%
Heterozygous Carrier
16%
Mode of Inheritance
16%
Compound Heterozygous mutation
16%
Forming Parts
16%
Pore-forming
16%
Channel Protein
16%
Multi-organ
16%
Channel Function
16%
Salt Loss
16%
SCNN1A
16%
SCNN1G
16%
SCN1B
16%
Neonatal Onset
16%
Consanguineous Parents
16%
Autosomal Dominant mutation
16%
Monogenic Disease
16%
Medicine and Dentistry
Autosomal Recessive Inheritance
100%
Pseudohypoaldosteronism
100%
SCNN1A
100%
Sodium Channel
66%
Mineralocorticoid Receptor
33%
Disease
16%
Cystic Fibrosis
16%
Exon
16%
Newborn Period
16%
Autosomal Dominant Inheritance
16%
Heterozygote
16%
Channel Protein
16%
Child
16%
Sodium Depletion
16%
SCNN1G
16%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Pseudohypoaldosteronism
100%
SCNN1A
100%
Sodium Channel
66%
Mineralocorticoid Receptor
33%
Exon
16%
Autosomal Dominant Inheritance
16%
Genetic Carrier
16%
Heterozygote
16%
Cystic Fibrosis
16%
Newborn Period
16%
Channel Protein
16%
SCNN1G
16%
SCNN1B
16%