Splice site mutations in the ATP7A gene. [electronic resource]
Producer: 20110816Description: e18599 p. digitalISSN:- 1932-6203
- Adenosine Triphosphatases -- genetics
- Cation Transport Proteins -- genetics
- Computational Biology
- Copper-Transporting ATPases
- Fibroblasts -- enzymology
- Gene Expression Regulation, Enzymologic
- Humans
- Menkes Kinky Hair Syndrome -- enzymology
- Mutation -- genetics
- Phenotype
- RNA Splice Sites -- genetics
- RNA, Messenger -- genetics
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Publication Type: Journal Article
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