Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Jouet et al.1993bNat. Genet.3314A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) 8401576

Mutations mentioned in reference

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

Patients

No patients specified