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Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

✍ Scribed by T. Onay; O. Topaloglu; J. Zielenski; N. Gokgoz; H. Kayserili; Y. Camcioglu; H. Cokugras; N. Akcakaya; M. Apak; L.-C. Tsui; B. Kirdar


Publisher
Springer
Year
1998
Tongue
English
Weight
183 KB
Volume
102
Category
Article
ISSN
0340-6717

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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