De Sandre-Giovannoli, Annachiara <br/><br/>
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.  [electronic resource] 

 -  American journal of human genetics  Mar 2002 
 - 726-36 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>10.1086/339274  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Algeria<br/>Amino Acid Sequence<br/>Animals<br/>Arginine--genetics<br/>Axons--pathology<br/>Base Sequence<br/>Charcot-Marie-Tooth Disease--classification<br/>Consanguinity<br/>Conserved Sequence<br/>Electrophysiology<br/>Exons--genetics<br/>Female<br/>Genes, Recessive--genetics<br/>Homozygote<br/>Humans<br/>Lamin Type A<br/>Lamins<br/>Linkage Disequilibrium--genetics<br/>Male<br/>Mice<br/>Mice, Knockout<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Nuclear Envelope--chemistry<br/>Nuclear Proteins--analysis<br/>Pedigree<br/>Sciatic Nerve--pathology