Ogawa, A <br/><br/>
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.  [electronic resource] 

 -  Journal of human genetics  2000 
 - 315-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1434-5161 
<br/><br/><label>Standard No.: </label>10.1007/s100380070024  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--genetics<br/>Base Sequence<br/>Carrier Proteins--genetics<br/>Cation Transport Proteins<br/>Child<br/>Codon, Nonsense<br/>Copper-Transporting ATPases<br/>DNA<br/>Genetic Carrier Screening<br/>Humans<br/>Japan<br/>Male<br/>Menkes Kinky Hair Syndrome--ethnology<br/>Molecular Sequence Data<br/>Polymorphism, Genetic<br/>Recombinant Fusion Proteins