American Journal of Human Genetics

Genome sequencing finds unknown cause of epilepsy

Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.

Feb 23, 2012
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Researchers identify new rare neuromuscular disease

An international team of researchers has identified a new inherited neuromuscular disorder. The rare condition is the result of a genetic mutation that interferes with the communication between nerves and ...

Sep 04, 2014
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