Wei, J

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. [electronic resource] - Human mutation Apr 2000 - 387-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1098-1004

10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU26>3.0.CO;2-T doi


Adolescent
Adult
Child, Preschool
Female
Frameshift Mutation--genetics
Genes, Dominant--genetics
Genes, Recessive--genetics
Hearing--genetics
Humans
KCNQ Potassium Channels
KCNQ1 Potassium Channel
Long QT Syndrome--congenital
Male
Mutation, Missense--genetics
Pedigree
Phenotype
Potassium Channels--genetics
Potassium Channels, Voltage-Gated