| http://purl.uniprot.org/citations/7920629 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7920629 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7920629 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary hyperekplexia, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal hypertonia, can be caused by mutations in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). Spasmodic (spd), a recessive neurologic mouse mutant, resembles hyperekplexia phenotypically, and the two disease loci map to homologous chromosomal regions. Here we describe a Glra1 missense mutation in spd that results in reduced agonist sensitivity in glycine receptors expressed in vitro. We conclude that spd is a murine homologue of hyperekplexia and that mutations in GLRA1/Glra1 can produce syndromes with different inheritance patterns."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0694-131"xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0694-131"xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Shiang R."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Shiang R."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Wasmuth J.J."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Wasmuth J.J."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Lynch J.W."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Lynch J.W."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Camper S.A."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Camper S.A."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "O'Connell P."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "O'Connell P."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Buckwalter M.S."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Buckwalter M.S."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Handford C.A."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Handford C.A."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Ryan S.G."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Ryan S.G."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Schofield P."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Schofield P."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Segura L."xsd:string |
| http://purl.uniprot.org/citations/7920629 | http://purl.uniprot.org/core/author | "Segura L."xsd:string |