Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference23 articles.
1. Molecular genetic reevaluation of the Dutch hyperekplexia family;Tijssen;Arch. Neurol.,1995
2. A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking;Humeny;Eur. J. Hum. Genet.,2002
3. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia;Shiang;Nat. Genet.,1993
4. A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors;Brune;Am. J. Hum. Genet.,1996
5. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB);Rees;Hum. Mol. Genet.,2002
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