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An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
PMID: 7981700 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.
Lewis TM, Sivilotti LG, Colquhoun D, Gardiner RM, Schoepfer R, Rees M.
J Physiol. 1998 Feb 15; 507 ( Pt 1):25-40.
[J Physiol. 1998]
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Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M.
J Med Genet. 1996 May; 33(5):435-6.
[J Med Genet. 1996]
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Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice.
Hartenstein B, Schenkel J, Kuhse J, Besenbeck B, Kling C, Becker CM, Betz H, Weiher H.
EMBO J. 1996 Mar 15; 15(6):1275-82.
[EMBO J. 1996]
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