Missense mutations in the extracellular
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Piret Michelson; Christine Hartwig; Melitta Schachner; Andreas Gal; Andres Veske
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Article
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2002
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John Wiley and Sons
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English
β 322 KB
Mutations in L1CAM, the gene encoding the transmembrane multifunctional neuronal adhesion molecule L1, are associated with neurodevelopmental disorders including X-linked hydrocephalus and mental retardation. Some amino acid substitutions in various extracellular domains of L1 are known to affect po