Population
Families diagnosed with long-QT syndrome
Design
Other
Authors
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May aid LQTS variant interpretation in genetic testing; hypothesis-generating for codon 344 as a mutational hotspot.
The study identifies novel splicing mutations in the KCNQ1 gene that cause Long-QT syndrome by disrupting normal transcript processing, highlighting codon 344 as a mutation hotspot.
Murray et al. (1999) studied this question.
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