Key result
The R1193Q mutation of SCN5A was identified by direct DNA sequencing in a four-generation family of Chinese descent with cardiac conduction abnormalities.
Population
Han Chinese population, including a four-generation family of Chinese descent with cardiac conduction disease
Authors
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May not be causative for conduction disease; leaves open whether R1193Q is a Han Chinese polymorphism.
The R1193Q mutation of SCN5A may be a common polymorphism in the Han Chinese population rather than a rare disease-causing mutation, though it is present in familial cardiac conduction disease.
H W Hwang (2005) conducted a letter in Cardiac conduction abnormalities. R1193Q mutation of SCN5A was evaluated. The R1193Q mutation of SCN5A was identified by direct DNA sequencing in a four-generation family of Chinese descent with cardiac conduction abnormalities.
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