Splicing Mutations in KCNQ1
نویسندگان
چکیده
منابع مشابه
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.
BACKGROUND Long-QT syndrome is a monogenic disorder that produces cardiac arrhythmias and can lead to sudden death. At least 5 loci and 4 known genes exist in which mutations have been shown to be responsible for the disease. The potassium channel gene KCNQ1, previously named KVLQT1, on chromosome 11p15.5 is one of these. METHODS AND RESULTS We initially analyzed one family using microsatelli...
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ژورنال
عنوان ژورنال: Circulation
سال: 1999
ISSN: 0009-7322,1524-4539
DOI: 10.1161/01.cir.100.10.1077