Article
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
Human mutation - 1 Jan 1997
MacFarlane J R, Du J S, Pepys M E, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates J R, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S
Abstract excerpt
Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual fam...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- DNA, Complementary
- Exons
- Female
- Genetic Linkage
- Humans
- Hydrocephalus
- Introns
- Leukocyte L1 Antigen Complex