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注意：仅列出部分参考文献，下载原文获取全部文献信息。GUSB and ATP2B4 are suitable reference genes for CFTR gene expression data normalization in nasal epithelium cells
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Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
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Processing of CFTR: Traversing the cellular maze - How much CFTR needs to go through to avoid cystic fibrosis?
MD Amaral
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The CFTR 3849+10kbC->T and 2789+5G->A alleles are a ssociated with a mild CF phenotype
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B Steiner et al.
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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
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New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
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Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis
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Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system
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Listening to silence and understanding nonsense: Exonic mutations that affect splicing
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