Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree
- 1 January 1998
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 11 (S1), S240-S241
- https://doi.org/10.1002/humu.1380110177
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- X linked hydrocephalus and MASA syndrome.Journal of Medical Genetics, 1996
- Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.Journal of Medical Genetics, 1995
- Mutations in the cell adhesion molecule LI cause mental retardationTrends in Neurosciences, 1995
- CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1European Journal of Human Genetics, 1995
- X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 geneNature Genetics, 1994
- Molecular structure and functional testing of human L1CAM: An interspecies comparisonGenomics, 1991
- Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectinNature, 1988
- L1 mono- and polyclonal antibodies modify cell migration in early postnatal mouse cerebellumNature, 1983