Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. [electronic resource]
Producer: 20200309Description: 162-176 p. digitalISSN:- 1098-1004
- Adolescent
- Adult
- Codon, Nonsense -- genetics
- Deafness -- genetics
- Female
- Heart Ventricles -- metabolism
- Heterozygote
- Homozygote
- Humans
- Jervell-Lange Nielsen Syndrome -- genetics
- Long QT Syndrome
- Male
- Middle Aged
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Potassium Channels, Voltage-Gated -- genetics
- Romano-Ward Syndrome -- genetics
- Young Adult
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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