A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. [electronic resource]
Producer: 20000807Description: 37-46 p. digitalISSN:- 0002-9297
- Amino Acid Sequence
- Base Sequence
- Charcot-Marie-Tooth Disease -- genetics
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 8 -- genetics
- DNA Mutational Analysis
- Female
- Genetic Linkage -- genetics
- Genetic Variation -- genetics
- Humans
- Lod Score
- Male
- Microsatellite Repeats -- genetics
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Neurofilament Proteins -- genetics
- Pedigree
- Polymorphism, Single-Stranded Conformational
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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