TY  - GEN
AU  - Wei,J
AU  - Fish,F A
AU  - Myerburg,R J
AU  - Roden,D M
AU  - George,A L
TI  - Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X
SN  - 1098-1004
PY  - 2000///0428
KW  - Adolescent
KW  - Adult
KW  - Child, Preschool
KW  - Female
KW  - Frameshift Mutation
KW  - genetics
KW  - Genes, Dominant
KW  - Genes, Recessive
KW  - Hearing
KW  - Humans
KW  - KCNQ Potassium Channels
KW  - KCNQ1 Potassium Channel
KW  - Long QT Syndrome
KW  - congenital
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Potassium Channels
KW  - Potassium Channels, Voltage-Gated
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU26>3.0.CO;2-T
ER  -