Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
نویسندگان
چکیده
منابع مشابه
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.
BACKGROUND Isolated cardiac conduction block is a relatively common condition in young and elderly populations. Genetic predisposing factors have long been suspected because of numerous familial case reports. Deciphering genetic predisposing factors of conduction blocks may give a hint at stratifying conduction block carriers in a more efficient way. METHODS AND RESULTS One Lebanese family an...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2018
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2018.06.009