Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. [electronic resource]
- Neurology Jan 2003
- 22-6 p. digital
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.
1526-632X
10.1212/wnl.60.1.22 doi
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