article_metadata: Jian Wang Tingting Yu Lei Yin Jing Li Li Yu Ye Shen Yongguo Yu Yongnian Shen Qihua Fu
article_metadata: 10.1371/journal.pone.0065676
article_metadata: PLoS One
article_metadata: 2013 Jun 6;8(6):e65676.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23762408/
article_metadata: Alternative Splicing Epithelial Sodium Channels / genetics Mutation Pseudohypoaldosteronism / genetics
article_metadata: Alternative Splicing Epithelial Sodium Channels / genetics Mutation Pseudohypoaldosteronism / genetics Case Reports Research Support, Non-U.S. Gov't Asian People Base Sequence Female HEK293 Cells Heterozygote Homozygote Humans Infant Infant, Newborn Molecular Sequence Data Pedigree Pseudohypoaldosteronism / ethnology RNA Splice Sites Epithelial Sodium Channels RNA Splice Sites SCNN1A protein, human
article_metadata: PMC3675083
article_metadata: 23762408
article_metadata: Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1
article_metadata: 2013