Møller, Lisbeth Birk

Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations. [electronic resource] - American journal of medical genetics. Part A Nov 2005 - 340-3 p. digital

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

1552-4825

10.1002/ajmg.a.30977 doi


Adenosine Triphosphatases--genetics
Base Sequence
Cation Transport Proteins--genetics
Child
Copper-Transporting ATPases
DNA Primers
Gene Deletion
Homozygote
Humans
Liver Diseases--genetics
Male
Reverse Transcriptase Polymerase Chain Reaction