Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. [electronic resource]
Producer: 20000428Description: 387-8 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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