Article
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
American journal of medical genetics - 22 Aug 1997
Gu S M, Orth U, Zankl M, Schröder J, Gal A
Abstract excerpt
Eight novel mutations were identified in the gene encoding L1CAM, a neural cell adhesion protein, in patients/families with X-linked hydrocephalus (XHC) providing additional evidence for extreme allelic heterogeneity of the trait. The two nonsense mutations (Gln440Ter and Gln1042Ter) result most...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- Female
- Genetic Linkage
- Heterozygote
- Humans
- Hydrocephalus
- Intellectual Disability
- Leukocyte L1 Antigen Complex
- Male
- Mutation
- Neural Cell Adhesion Molecules
- Pedigree
- Phenotype
- Polymorphism, Single-Stranded Conformational
- X Chromosome