Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR
Author:
Affiliation:
1. Invitae San Francisco California USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24250
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1. Cystic fibrosis: a clinical view
2. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
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4. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
5. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
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