Mutation in KCNQ1 that has both recessive and dominant characteristics.
A
A
Murray
F
F
Potet
C
C
Bellocq
I
I
Baró
W
W
Reardon
H E
HE
Hughes
S
S
Jeffery
D000818:Animals; D019556:COS Cells; D002675:Child, Preschool; D003241:Consanguinity; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D008564:Membrane Potentials / Q000235:genetics / Q000502:physiology; D009154:Mutation; D020125:Mutation, Missense; D018408:Patch-Clamp Techniques; D010375:Pedigree; D010641:Phenotype; D010957:Plasmids / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated
D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D004247:DNA