de Bie, P <br/><br/>
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.  [electronic resource] 

 -  Journal of medical genetics  Nov 2007 
 - 673-88 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2007.052746  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--chemistry<br/>Adenosine Triphosphate--metabolism<br/>Animals<br/>Cation Transport Proteins--chemistry<br/>Copper--metabolism<br/>Copper-Transporting ATPases<br/>Disease Models, Animal<br/>Female<br/>Genotype<br/>Hepatolenticular Degeneration--genetics<br/>Humans<br/>Male<br/>Menkes Kinky Hair Syndrome--genetics<br/>Mice<br/>Mice, Mutant Strains<br/>Mutation, Missense<br/>Phenotype<br/>Protein Interaction Mapping<br/>Protein Structure, Tertiary<br/>Rats<br/>Rats, Inbred LEC<br/>Structure-Activity Relationship<br/>Zebrafish