A new type of mutation causes a splicing defect in ATM

Author:

Pagani Franco,Buratti Emanuele,Stuani Cristiana,Bendix Regina,Dörk Thilo,Baralle Francisco E.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference27 articles.

1. Liu, H.X., Cartegni, L., Zhang, M.Q. & Krainer, A.R. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nature Genet. 27, 55–58 (2001).

2. Vervoort, R., Gitzelmann, R., Lissens, W. & Liebaers, I. A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene. Hum. Genet. 103, 686–693 (1998).

3. Chillon, M. et al. A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA→G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am. J. Hum. Genet. 56, 623–629 (1995).

4. Wang, M., Dotzlaw, H., Fuqua, S.A. & Murphy, L.C. A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion. Breast Cancer Res. Treat. 44, 145–151 (1997).

5. Highsmith, W.E. et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N. Engl. J. Med. 331, 974–980 (1994).

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