A splicing mutation (1898 + 1G→T) in the CFTR gene causing cystic fibrosis
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference8 articles.
1. (1989) Cystic fibrosis. In (eds): The Metabolic Basis of Inherited Disease. 6th Ed. New York: McGraw-Hill, pp 2649-2680.
2. Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene
3. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
4. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
5. Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
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3. c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature;World Journal of Clinical Cases;2019-08-06
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