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Identification of novel mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the Greek population

✍ Scribed by M. Poulou; S. Doudounakis; E. Kanavakis; M. Tzetis


Book ID
118642483
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
53 KB
Volume
9
Category
Article
ISSN
1569-1993

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Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories-missense (R3 lL, W1098R), nonsense ( E l 104X), and frameshift (441delA, 681delC, 1461ins4)-are located in exons 2 , 4 , 5 , 9 , and 17b of the gene and presumed to cause cystic fibrosis