Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Okamoto et al.1996Jpn J Hum Genet431-43741A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus 9088116

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 4Exon 22c.2999delGp.Gly1000AlafsX111Deletion; frameshiftDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 Unknown c.2999delG p.Gly1000AlafsX111Exon 22 Unknown