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An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome
Zeynep Tümer
Medical Genetics Program
82
Citations (Scopus)
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Medicine & Life Sciences
Animal Models
6%
Connective Tissue
8%
Copper
34%
copper histidine
16%
Enzymes
4%
Gene Deletion
9%
Genes
3%
Hair
8%
Menkes Kinky Hair Syndrome
79%
Mutation
28%
Occipital horn syndrome
100%
Proteins
3%
Therapeutics
1%
X-Linked Genes
10%