Condition: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
rs199473353 in
KCNE1 gene and
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
PMID 10400998 1999 Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
PMID 9328483 1997 IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.
PMID 21676880 2011 Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.
PMID 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.