Yue Qiu Sen Chen Xia Wu Wen-Juan Zhang Wen Xie Yuan Jin Le Xie Kai Xu Xue Bai Hui-Min Zhang Xiao-Zhou Liu Xiao-Hui Wang Yu Sun Wei-Jia Kong
10.1155/2020/3569359
Neural Plast
2020 May 16;2020:3569359.
CC BY
https://pubmed.ncbi.nlm.nih.gov/32508908/
Jervell-Lange Nielsen Syndrome / genetics KCNQ1 Potassium Channel / genetics Mutation
Jervell-Lange Nielsen Syndrome / genetics KCNQ1 Potassium Channel / genetics Mutation Case Reports Research Support, Non-U.S. Gov't Asian People Child, Preschool China DNA Mutational Analysis Deafness / genetics Heterozygote High-Throughput Nucleotide Sequencing Humans Jervell-Lange Nielsen Syndrome / physiopathology Male Pedigree KCNQ1 Potassium Channel KCNQ1 protein, human
PMC7246397
32508908
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family
2020