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Intracellular trafficking of pathological missense mutations of neural cell adhesion molecule L1 (L1CAM)

โœ Scribed by Kanako Fujisaki; Yoshikatu Aikawa; Kouichi Itoh


Book ID
116776826
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
82 KB
Volume
65
Category
Article
ISSN
0168-0102

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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