https://www.selleckchem.com/pr....oducts/deoxycholic-a
The p.D230N variant lies on the interface between CHRNA3 and other nAChR subunits based on structural modeling and is predicted to destabilize the nAChR pentameric complex. We report a novel genetic disease that affected 3 individuals from 2 unrelated families who presented with severe nOH, miosis, and constipation. These patients had rare pathologic variants in the gene that cosegregate with and are predicted to be the likely cause of their diffuse panautonomic failure. We report a novel genetic disease that affect
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