HYPEREKPLEXIA 1; HKPX1

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Summary

Literature (2)

Literature for OMIM 149400: HYPEREKPLEXIA 1; HKPX1

Xenbase Articles:
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Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia., Rea R,Tijssen MA,Herd C,Frants RR,Kullmann DM, Eur J Neurosci. July 1, 2002; 16(2):1460-9568.
Isoform-selective deficit of glycine receptors in the mouse mutant spastic., Becker CM,Schmieden V,Tarroni P,Strasser U,Betz H, Neuron. February 1, 1992; 8(2):0896-6273.

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia., Rea R,Tijssen MA,Herd C,Frants RR,Kullmann DM, Eur J Neurosci. July 1, 2002; 16(2):1460-9568.

Isoform-selective deficit of glycine receptors in the mouse mutant spastic., Becker CM,Schmieden V,Tarroni P,Strasser U,Betz H, Neuron. February 1, 1992; 8(2):0896-6273.