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Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype

✍ Scribed by P. Jézéquel,B. Chauvel,A. Le Treut,J. Y. Le Gall,V. David…

Book ID
118291960
Publisher
Springer
Year
1996
Tongue
English
Weight
25 KB
Volume
97
Category
Article
ISSN
0340-6717

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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