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A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene

✍ Scribed by D. Feldmann; F. Laroze; C. Troadec; A. Clement; G. Tournier; R. Couderc


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
14 KB
Volume
17
Category
Article
ISSN
1059-7794

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A woman with a family history of cystic fibrosis (CF) requested DNA analysis at 4 months of pregnancy. Since her brother died at age of 10 in 1986, it was necessary to perform DGGE screening of CFTR exons on DNA from the 2 parents. An aberrant heteroduplex pattern was observed for exon 10 amplified