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Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion

✍ Scribed by Hantash, Feras M.; Rebuyon, Arlene; Peng, Mei; Redman, Joy B.; Sun, Weimin; Strom, Charles M.


Book ID
123239325
Publisher
American Society for Investigative Pathology
Year
2009
Tongue
English
Weight
280 KB
Volume
11
Category
Article
ISSN
1525-1578

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Cystic fibrosis (CF) is mainly caused by small molecular lesions of the CFTR gene; mutation detection methods based on conventional PCR do not allow the identification of all CF alleles in a population and large deletions may account for a number of these unidentified molecular lesions. It is only r