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Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate

โœ Scribed by Ling Cheng; Vance Lemmon


Book ID
116735234
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
373 KB
Volume
27
Category
Article
ISSN
1044-7431

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Missense mutations in the extracellular
โœ Piret Michelson; Christine Hartwig; Melitta Schachner; Andreas Gal; Andres Veske ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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