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Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H. Lo Ten Foe JR, et al. Among authors: joenje h. Nat Genet. 1996 Nov;14(3):320-3. doi: 10.1038/ng1196-320. Nat Genet. 1996. PMID: 8896563
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Waisfisz Q, de Winter JP, Kruyt FA, de Groot J, van der Weel L, Dijkmans LM, Zhi Y, Arwert F, Scheper RJ, Youssoufian H, Hoatlin ME, Joenje H. Waisfisz Q, et al. Among authors: joenje h. Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10320-5. doi: 10.1073/pnas.96.18.10320. Proc Natl Acad Sci U S A. 1999. PMID: 10468606 Free PMC article.
Evidence for subcomplexes in the Fanconi anemia pathway.
Medhurst AL, Laghmani el H, Steltenpool J, Ferrer M, Fontaine C, de Groot J, Rooimans MA, Scheper RJ, Meetei AR, Wang W, Joenje H, de Winter JP. Medhurst AL, et al. Among authors: joenje h. Blood. 2006 Sep 15;108(6):2072-80. doi: 10.1182/blood-2005-11-008151. Epub 2006 May 23. Blood. 2006. PMID: 16720839 Free PMC article.
Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.
Lo Ten Foe JR, Kruyt FA, Zweekhorst MB, Pals G, Gibson RA, Mathew CG, Joenje H, Arwert F. Lo Ten Foe JR, et al. Among authors: joenje h. Hum Mutat. 1998;Suppl 1:S25-7. doi: 10.1002/humu.1380110109. Hum Mutat. 1998. PMID: 9452030 No abstract available.
208 results