Functional characterization of the new human GABAA receptor mutation β3(R192H)


We screened 124 individuals for single nucleotide polymorphisms of the α1, β3 and γ2 genes of the GABAA receptor in the regions corresponding to the ligand-binding domains on the protein level. In a patient with chronic insomnia, a missense mutation was found in the gene of the β3 subunit. This mutation results in the substitution of the amino acid residue… (More)
DOI: 10.1007/s00439-002-0766-7

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