Loudianos, G

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. [electronic resource] - Human mutation Oct 2002 - 260-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.10121 doi


Adenosine Triphosphatases--genetics
Adolescent
Age of Onset
Alternative Splicing--genetics
Cation Transport Proteins--genetics
Child
Consensus Sequence--genetics
Copper-Transporting ATPases
DNA Mutational Analysis--methods
Female
Hepatolenticular Degeneration--genetics
Humans
Male
Mutation--genetics
RNA Splicing--genetics
RNA, Messenger--genetics
Reverse Transcriptase Polymerase Chain Reaction