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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)
Overview
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Dive into the research topics of 'An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome'. Together they form a unique fingerprint.
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Medicine & Life Sciences
Occipital horn syndrome
100%
Menkes Kinky Hair Syndrome
79%
Copper
34%
Mutation
28%
copper histidine
16%
X-Linked Genes
10%
Gene Deletion
9%
Hair
8%
Connective Tissue
8%
Animal Models
6%
Enzymes
4%
Genes
3%
Proteins
3%
Therapeutics
1%