Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. [electronic resource]
Producer: 20030122Description: 22-6 p. digitalISSN:- 1526-632X
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Northern
- Blotting, Western
- Charcot-Marie-Tooth Disease -- genetics
- Chromosomes, Human, Pair 16 -- genetics
- Cloning, Molecular
- DNA Mutational Analysis
- Female
- Gene Expression Regulation
- Genetic Testing
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation, Missense
- Nerve Regeneration -- genetics
- Nuclear Proteins
- Organ Specificity
- Pedigree
- Protein Processing, Post-Translational
- Protein Structure, Tertiary -- genetics
- Rats
- Rats, Sprague-Dawley
- Sciatic Nerve -- growth & development
- Transcription Factors -- biosynthesis
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
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