Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling. [electronic resource]
- Gene Sep 2017
- 40-48 p. digital
Publication Type: Case Reports; Journal Article
1879-0038
10.1016/j.gene.2017.06.011 doi
Child DNA Mutational Analysis Death, Sudden, Cardiac Female Heterozygote Humans KCNQ1 Potassium Channel--chemistry Models, Molecular Pedigree Point Mutation Romano-Ward Syndrome--genetics