Møller, Lisbeth Birk <br/><br/>
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.  [electronic resource] 

 -  Molecular genetics and metabolism  Dec 2013 
 - 490-2 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2013.09.012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--genetics<br/>Cation Transport Proteins--genetics<br/>Copper-Transporting ATPases<br/>Exons<br/>Genetic Association Studies<br/>Humans<br/>Male<br/>Menkes Kinky Hair Syndrome--genetics<br/>Mutation<br/>RNA Splicing--genetics