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