Antúnez-Argüelles, Erika

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