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Article

A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia.

Journal of medical genetics - 1 May 2003

Miraglia Del Giudice E, Coppola G, Bellini G, Ledaal P, Hertz J M, Pascotto A

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Share to DNA Mutational Analysis
Share to Infant, Newborn
Share to Molecular Sequence Data
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Structure, Tertiary

Share to Receptors, Glycine

Share to Reflex, Startle

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Identifiers

PMID: 12746425
DOI: 10.1136/jmg.40.5.e71
PMCID: PMC1735464

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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