Jian Wang Tingting Yu Lei Yin Jing Li Li Yu Ye Shen Yongguo Yu Yongnian Shen Qihua Fu
10.1371/journal.pone.0065676
PLoS One
2013 Jun 6;8(6):e65676.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23762408/
Alternative Splicing Epithelial Sodium Channels / genetics Mutation Pseudohypoaldosteronism / genetics
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
PMC3675083
23762408
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1
2013