Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

Keyphrases

• Gene Expression 100%
• Phenotypic Expression 100%
• Novel mutation 100%
• Multisystem 100%
• Epithelial Sodium Channel (ENaC) 100%
• Hyperaldosteronism 100%
• Control Subjects 18%
• Mild Cases 18%
• Missense mutation 18%
• Salt Loss 18%
• Chromosome 12 9%
• Clinical Presentation 9%
• Three-generation 9%
• Deletion mutation 9%
• Aldosterone 9%
• First Week of Life 9%
• Autosomal Recessive 9%
• Severe Course 9%
• Lower Respiratory Tract Infection 9%
• Homozygous mutation 9%
• Compound Heterozygous mutation 9%
• Sequence Variants 9%
• Unresponsiveness 9%
• Splicing mutation 9%
• Exon 8 9%
• Coding Region 9%
• Missense 9%
• Novel Deletion 9%
• Chromosome 16 9%
• Exon Junction 9%
• Normal Length 9%

Biochemistry, Genetics and Molecular Biology

• Pseudohypoaldosteronism 100%
• Epithelial Sodium Channel 100%
• Exon 15%
• Intron 15%
• Missense Mutation 15%
• Chromosome 12 7%
• Infancy 7%
• Genetic Carrier 7%
• Heterozygote 7%
• Autosomal Recessive Inheritance 7%
• Splice Site Mutation 7%
• Coding Region 7%
• Chromosome 16 7%
• Missense 7%
• Aldosterone 7%