Mutations in the gene encoding GlyT2 ( SLC6A5 ) define a presynaptic component of human startle disease
Nature Publishing Group
Nature Archives 1869 - 2009
[Auszug] Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutations in the gene encoding the inhibitory glycine receptor (GlyR) α1 subunit (GLRA1). Genetic heterogeneity has been confirmed in rare sporadic ...
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