Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. [electronic resource]
Producer: 19990415Description: 1344-7 p. digitalISSN:- 0009-7322
- Adult
- Chromosomes, Human, Pair 11 -- genetics
- DNA Mutational Analysis
- Ethnicity -- genetics
- Female
- Frameshift Mutation
- Genes, Recessive
- Humans
- Ion Transport
- KCNQ Potassium Channels
- KCNQ1 Potassium Channel
- Long QT Syndrome -- ethnology
- Male
- Pedigree
- Phenotype
- Polymorphism, Single-Stranded Conformational
- Potassium -- metabolism
- Potassium Channels -- chemistry
- Potassium Channels, Voltage-Gated
- Sequence Deletion
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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