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Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease
Author(s) -
Hui Liu,
Loubna El Zein,
Martin Kruse,
Romain Guinamard,
Alf Beckmann,
A Bozio,
Güven Kurtbay,
André Mégarbané,
Iris Ohmert,
G Blaysat,
E Villain,
Olaf Pongs,
Patrice Bouvagnet
Publication year - 2010
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-325X
pISSN - 1942-3268
DOI - 10.1161/circgenetics.109.930867
Subject(s) - disease , gain of function , genetics , medicine , mutation , genotype , cardiology , biology , gene
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.

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