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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: mathew cg. Hum Mutat. 1998;Suppl 1:S25-7. doi: 10.1002/humu.1380110109. Hum Mutat. 1998. PMID: 9452030 No abstract available.
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M. Waisfisz Q, et al. Among authors: mathew cg. Am J Hum Genet. 1999 May;64(5):1400-5. doi: 10.1086/302385. Am J Hum Genet. 1999. PMID: 10205272 Free PMC article.
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H. de Winter JP, et al. Among authors: mathew cg. Am J Hum Genet. 2000 Nov;67(5):1306-8. doi: 10.1016/S0002-9297(07)62959-0. Epub 2000 Sep 19. Am J Hum Genet. 2000. PMID: 11001585 Free PMC article.
Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.
Tischkowitz M, Ameziane N, Waisfisz Q, De Winter JP, Harris R, Taniguchi T, D'Andrea A, Hodgson SV, Mathew CG, Joenje H. Tischkowitz M, et al. Among authors: mathew cg. Br J Haematol. 2003 Nov;123(3):469-71. doi: 10.1046/j.1365-2141.2003.04640.x. Br J Haematol. 2003. PMID: 14617007 Free article.
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.
Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, Hoatlin ME, Waisfisz Q, Arwert F, de Winter JP, Joenje H. Levitus M, et al. Among authors: mathew cg. Blood. 2004 Apr 1;103(7):2498-503. doi: 10.1182/blood-2003-08-2915. Epub 2003 Nov 20. Blood. 2004. PMID: 14630800 Free article.
331 results