Lin, Yi-Jie <br/><br/>
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.  [electronic resource] 

 -  Pediatrics and neonatology  02 2017 
 - 89-92 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2212-1692 
<br/><br/><label>Standard No.: </label>10.1016/j.pedneo.2014.05.008  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--genetics<br/>Cation Transport Proteins--genetics<br/>Copper-Transporting ATPases<br/>Histidine--analogs & derivatives<br/>Humans<br/>Infant<br/>Male<br/>Menkes Kinky Hair Syndrome--diagnosis<br/>Organometallic Compounds--therapeutic use<br/>Point Mutation--genetics