ISSN:
1435-232X
Keywords:
Key words Menkes disease
;
ATP7A
;
MNK gene
;
Polymorphism
;
Copper
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050194
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