Inherited Peripheral Neuropathies Mutation Database

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Reference

Title The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Authors Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C
Reference Am J Hum Genet 81: 67-76, 2007 (PubMed ID: 17564964 )
PLEKHG5: ([Phe647Ser]+[Phe647Ser])
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