Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2013238.pdf
Reference30 articles.
1. Krawczak M, Thomas NS, Hundrieser B et al: Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 2007; 28: 150–158.
2. Cartegni L, Chew SL, Krainer AR : Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002; 3: 285–298.
3. Baralle D, Lucassen A, Buratti E : Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 2009; 10: 810–816.
4. Beck S, Penque D, Garcia S et al: Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane. Hum Mutat 1999; 14: 133–144.
5. Raponi M, Baralle D : Alternative splicing: good and bad effects of translationally silent substitutions. FEBS J 2010; 277: 836–840.
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