volume 35, issue 11, P901-904 1998
DOI: 10.1136/jmg.35.11.901
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Abstract: AbstractThe LI celi adhesion molecule (LlCAM) plays an important role in axon growth, fasciculation, and neural migration. Mutations in the L1CAM gene produce a phenotype characterised by X linked hydrocephalus, mental retardation, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum. We have conducted a detailed analysis of the phenotypic effects of missense mutations in the extraceliular portion of LICAM, foliowing a study that differentiated between "key" amino acid residues critical …

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