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 |
---|---|
2005 | 1 |
2010 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 63929
3 results
Results by year
Filters applied: . Clear all
Page 1
Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient.
Iran Biomed J. 2020 Nov;24(6):405-8. doi: 10.29252/ibj.24.6.400. Epub 2020 May 31.
Iran Biomed J. 2020.
PMID: 32660933
Free PMC article.
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F.
O'Toole JF, et al.
J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22.
J Clin Invest. 2010.
PMID: 20179356
Free PMC article.
Item in Clipboard
Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions.
Erşahin C, Szpaderska AM, Orawski AT, Simmons WH.
Erşahin C, et al.
Arch Biochem Biophys. 2005 Mar 15;435(2):303-10. doi: 10.1016/j.abb.2004.12.023.
Arch Biochem Biophys. 2005.
PMID: 15708373
Item in Clipboard
Cite
Cite