Article
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Trends in genetics : TIG - 1 Apr 1994
Patel P I, Lupski J R
Abstract excerpt
Recent work has identified the genes and mutational mechanisms that underlie several inherited diseases of the peripheral nervous system and has provided both the first genetic rationale for classification of these disorders and an insight into their biological basis. These studies have yielded s...
Topics
- Amino Acid Sequence
- Animals
- Charcot-Marie-Tooth Disease
- Disease Models, Animal
- Gene Expression Regulation
- Humans
- Mice
- Mice, Neurologic Mutants
- Models, Genetic
- Molecular Sequence Data
- Multigene Family
- Myelin P0 Protein
- Myelin Proteins
- Phenotype
- Prevalence
- Protein Conformation
- Rats
- X Chromosome