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Case Reports
. 2003 May;40(5):e71.
doi: 10.1136/jmg.40.5.e71.

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

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Case Reports

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

E Miraglia Del Giudice et al. J Med Genet. 2003 May.
No abstract available

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