TY  - GEN
AU  - Mersiyanova,I V
AU  - Perepelov,A V
AU  - Polyakov,A V
AU  - Sitnikov,V F
AU  - Dadali,E L
AU  - Oparin,R B
AU  - Petrin,A N
AU  - Evgrafov,O V
TI  - A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
SN  - 0002-9297
PY  - 2000///0807
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Charcot-Marie-Tooth Disease
KW  - genetics
KW  - Child
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 8
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Linkage
KW  - Genetic Variation
KW  - Humans
KW  - Lod Score
KW  - Male
KW  - Microsatellite Repeats
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Neurofilament Proteins
KW  - Pedigree
KW  - Polymorphism, Single-Stranded Conformational
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/302962
ER  -