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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.
Mutation analysis of the Fanconi anemia gene FACC.
Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD. Verlander PC, et al. Among authors: mathew cg. Am J Hum Genet. 1994 Apr;54(4):595-601. Am J Hum Genet. 1994. PMID: 8128956 Free PMC article.
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Gibson RA, Morgan NV, Goldstein LH, Pearson IC, Kesterton IP, Foot NJ, Jansen S, Havenga C, Pearson T, de Ravel TJ, Cohn RJ, Marques IM, Dokal I, Roberts I, Marsh J, Ball S, Milner RD, Llerena JC Jr, Samochatova E, Mohan SP, Vasudevan P, Birjandi F, Hajianpour A, Murer-Orlando M, Mathew CG. Gibson RA, et al. Among authors: mathew cg. Hum Mutat. 1996;8(2):140-8. doi: 10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F. Hum Mutat. 1996. PMID: 8844212
332 results