Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. [electronic resource]
Producer: 20070831Description: 974-8 p. digitalISSN:- 0003-9942
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- DNA Mutational Analysis
- Down-Regulation -- genetics
- Electrodiagnosis
- Female
- Frameshift Mutation
- Genetic Markers -- genetics
- Genetic Predisposition to Disease -- genetics
- Genetic Testing
- Heredodegenerative Disorders, Nervous System -- genetics
- Humans
- Leucine -- genetics
- Male
- Middle Aged
- Myelin Proteins -- biosynthesis
- Neural Conduction -- genetics
- Peripheral Nerves -- metabolism
- Peripheral Nervous System Diseases -- genetics
- Phenotype
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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