A novel mutation (Gln266-->His) in the alpha 1 sub...[Am J Hum Genet. 1996]

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1: Am J Hum Genet. 1996 Feb;58(2):420-2. Links

A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.

PMID: 8571969 [PubMed - indexed for MEDLINE]

PMCID: PMC1914546

Corticospinal transmission to leg motoneurones in human subjects with deficient glycinergic inhibition.
Nielsen JB, Tijssen MA, Hansen NL, Crone C, Petersen NT, Brown P, Van Dijk JG, Rothwell JC. J Physiol. 2002 Oct 15; 544(Pt 2):631-40.

[J Physiol. 2002]
ReviewHyperekplexia in neonates.
Praveen V, Patole SK, Whitehall JS. Postgrad Med J. 2001 Sep; 77(911):570-2.

[Postgrad Med J. 2001]
Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.
Lynch JW, Rajendra S, Pierce KD, Handford CA, Barry PH, Schofield PR. EMBO J. 1997 Jan 2; 16(1):110-20.

[EMBO J. 1997]
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