TY  - GEN
AU  - Street,V A
AU  - Bennett,C L
AU  - Goldy,J D
AU  - Shirk,A J
AU  - Kleopa,K A
AU  - Tempel,B L
AU  - Lipe,H P
AU  - Scherer,S S
AU  - Bird,T D
AU  - Chance,P F
TI  - Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
SN  - 1526-632X
PY  - 2003///0122
KW  - Amino Acid Sequence
KW  - Animals
KW  - Base Sequence
KW  - Blotting, Northern
KW  - Blotting, Western
KW  - Charcot-Marie-Tooth Disease
KW  - genetics
KW  - Chromosomes, Human, Pair 16
KW  - Cloning, Molecular
KW  - DNA Mutational Analysis
KW  - Female
KW  - Gene Expression Regulation
KW  - Genetic Testing
KW  - Humans
KW  - Male
KW  - Membrane Proteins
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Nerve Regeneration
KW  - Nuclear Proteins
KW  - Organ Specificity
KW  - Pedigree
KW  - Protein Processing, Post-Translational
KW  - Protein Structure, Tertiary
KW  - Rats
KW  - Rats, Sprague-Dawley
KW  - Sciatic Nerve
KW  - growth & development
KW  - Transcription Factors
KW  - biosynthesis
N1  - 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
UR  - https://doi.org/10.1212/wnl.60.1.22
ER  -