A BRCA1 nonsense mutation causes exon skipping.
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G M Lenoir | H T Lynch | G. Lenoir | S. Mazoyer | H. Lynch | S Mazoyer | N Puget | L Perrin-Vidoz | O M Serova-Sinilnikova | N. Puget | O. Serova-Sinilnikova | L. Perrin-Vidoz | Laure Perrin-Vidoz
[1] H. Dietz,et al. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection , 1994, Nature Genetics.
[2] C. Mathew,et al. A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. , 1993, Human molecular genetics.
[3] K. Weinberg,et al. Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. , 1995, Human molecular genetics.
[4] F. Couch,et al. Mutations and Polymorphisms in the familial early‐onset breast cancer (BRCA1) gene , 1996, Human mutation.
[5] A. Harris,et al. The stop mutation R553X in the CFTR gene results in exon skipping. , 1994, Genomics.
[6] M. Skolnick,et al. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. , 1997, Human molecular genetics.
[7] Chun-Fang Xu,et al. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families , 1997, Genes, chromosomes & cancer.
[8] J. Mornon,et al. From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair , 1997, FEBS letters.
[9] D. Clayton,et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation , 1995, Nature Genetics.
[10] L. Maquat. Defects in RNA splicing and the consequence of shortened translational reading frames. , 1996, American journal of human genetics.
[11] T. Cooper,et al. The regulation of splice-site selection, and its role in human disease. , 1997, American journal of human genetics.
[12] J. Pié,et al. A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. , 1997, The Biochemical journal.
[13] G. Lenoir,et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. , 1997, Cancer research.
[14] Steven E. Bayer,et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.
[15] C. Bonaïti‐pellié,et al. Effects of misspecifying genetic parameters in lod score analysis. , 1986, Biometrics.
[16] David Valle,et al. The skipping of constitutive exons in vivo induced by nonsense mutations , 1993, Science.
[17] F. Giannelli,et al. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. , 1993, Human molecular genetics.
[18] M. Skolnick,et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. , 1995, JAMA.