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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
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwert F, Joenje H. Lo Ten Foe JR, et al. Among authors: mathew cg. Eur J Hum Genet. 1997 May-Jun;5(3):137-48. Eur J Hum Genet. 1997. PMID: 9272737
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.
329 results