Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia

The alpha(1)-inhibitory glycine receptor is a ligand-gated chloride channel composed of three ligand-binding alpha1-subunits and two structural beta-subunits that are clustered on the postsynaptic membrane of inhibitory glycinergic neurons. Dominant and recessive mutations in GLRA1 subunits have bee...

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Veröffentlicht in:	Human genetics 2001-09, Vol.109 (3), p.267-270
Hauptverfasser:	Rees, M I, Lewis, T M, Vafa, B, Ferrie, C, Corry, P, Muntoni, F, Jungbluth, H, Stephenson, J B, Kerr, M, Snell, R G, Schofield, P R, Owen, M J
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence Codon, Nonsense DNA Fingerprinting DNA, Complementary - genetics Heterozygote Humans Muscle Hypertonia - genetics Mutation, Missense Polymorphism, Single-Stranded Conformational Receptors, Glycine - genetics Reflex, Abnormal - genetics Reflex, Startle - genetics
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