Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1998-08-17
2000-11-21
Jones, W. Gary
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 912, 4352521, 536 231, 536 243, C12Q 168, C12P 1934, C12N 120, C07H 2104
Patent
active
061501042
ABSTRACT:
Jervell and Lange-Nielsen syndrome (JLN) is an autosomal recessive form of long QT syndrome. In addition to QT interval prolongation, this disorder is associated with congenital deafness. JLN is rare, but affected individuals are susceptible to cardiac arrhythmias with a high incidence of sudden death and short life expectancy. A homozygous mutation in KVLQT1, the potassium channel gene responsible for chromosome 11-linked long QT syndrome, is shown to be a cause of JLN.
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Keating Mark T.
Splawski Igor
Jones W. Gary
Souaya Jehanne
University of Utah Research Foundation
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