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