Mersiyanova, I V <br/><br/>
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.  [electronic resource] 

 -  American journal of human genetics  Jul 2000 
 - 37-46 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/302962  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Charcot-Marie-Tooth Disease--genetics<br/>Child<br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 8--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Linkage--genetics<br/>Genetic Variation--genetics<br/>Humans<br/>Lod Score<br/>Male<br/>Microsatellite Repeats--genetics<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Neurofilament Proteins--genetics<br/>Pedigree<br/>Polymorphism, Single-Stranded Conformational