Skjørringe, Tina
Splice site mutations in the ATP7A gene. [electronic resource]
- PloS one Apr 2011
- e18599 p. digital
Publication Type: Journal Article
1932-6203
10.1371/journal.pone.0018599 doi
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