Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2005 | 1 |
2007 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
Hum Mol Genet. 1999 Sep;8(9):1665-71. doi: 10.1093/hmg/8.9.1665.
Hum Mol Genet. 1999.
PMID: 10441329
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
Gromadzka G, et al.
Clin Genet. 2005 Dec;68(6):524-32. doi: 10.1111/j.1399-0004.2005.00528.x.
Clin Genet. 2005.
PMID: 16283883
Item in Clipboard
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Lepori MB, Lovicu M, Dessi V, Zappu A, Incollu S, Zancan L, Giacchino R, Iorio R, Vajro P, Maggiore G, Marcellini M, Barbera C, Pellecchia MT, Simonetti R, Kostic V, Farci AM, Solinas A, De Virgiliis S, Cao A, Loudianos G.
Lepori MB, et al.
Genet Test. 2007 Fall;11(3):328-32. doi: 10.1089/gte.2007.0015.
Genet Test. 2007.
PMID: 17949296
Item in Clipboard
Cite
Cite