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CFTR Mutations in Turkish and North African Cystic Fibrosis Patients in Europe: Implications for Screening

✍ Scribed by Lakeman, Phillis; Gille, Johan J.P.; Dankert-Roelse, Jeannette E.; Heijerman, Harry G.M.; Munck, Anne; Iron, Albert; Grasemann, Hartmut; Schuster, Antje; Cornel, Martina C.; ten Kate, Leo P.

Book ID: 118008872
Publisher: Mary Ann Liebert
Year: 2008
Tongue: English
Weight: 222 KB
Volume: 12
Category: Article
ISSN: 1090-6576
DOI: 10.1089/gte.2007.0046

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## Abstract We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations were identified: four missense (K68E,