Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Rünker et al.2003J. Neurosc277-28623(1)The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo 12514225

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 3Exon 7c.791G>Ap.Cys264TyrMissenseDisease-causing Details

Patients

No patients specified