Ontology highlight
ABSTRACT:
SUBMITTER: Brune W
PROVIDER: S-EPMC1914607 | biostudies-other | 1996 May
REPOSITORIES: biostudies-other
American journal of human genetics 19960501 5
Dominant missense mutations in the human glycine receptor (GlyR) alpha 1 subunit gene (GLRA1) give rise to hereditary hyperekplexia. These mutations impair agonist affinities and change conductance states of expressed mutant channels, resulting in a partial loss of function. In a recessive case of hyperekplexia, we found a deletion of exons 1-6 of the GLRA1 gene. Born to consanguineous parents, the affected child is homozygous for this GLRA1(null) allele consistent with a complete loss of gene f ...[more]