Literature DB >> 2210752

Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.

J Hundrieser1, S Bremer, F Peinemann, M Stuhrmann, N Hoffknecht, B Wulf, J Schmidtke, J Reiss, G Maass, B Tümmler.   

Abstract

The F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was found in 8 out of 30 Turkish cystic fibrosis (CF) chromosomes (27%). Five Turkish delta F508 CF chromosomes were associated with the risk haplotype B in KM19 (2 allele)/XV2c (1 allele). In the Turkish population, cystic fibrosis is predominantly caused by mutations other than the F508 deletion.

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Year:  1990        PMID： 2210752     DOI： 10.1007/bf02428283

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.

Authors:  C Gille; K Grade; C Coutelle
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

2.  The origin of Eastern European Jews revealed by autosomal, sex chromosomal and mtDNA polymorphisms.

Authors:  Avshalom Zoossmann-Diskin
Journal:  Biol Direct       Date:  2010-10-06       Impact factor: 4.540

3.  Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

Authors:  T Casals; C Vázquez; C Lázaro; E Girbau; F J Giménez; X Estivill
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

Review 4.  Lung infections associated with cystic fibrosis.

Authors:  Jeffrey B Lyczak; Carolyn L Cannon; Gerald B Pier
Journal:  Clin Microbiol Rev       Date:  2002-04       Impact factor: 26.132

5.  Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran.

Authors:  Mohammad-Reza Esmaeili Dooki; Haleh Akhavan-Niaki; Ali Ghabeli Juibary
Journal:  Iran J Pediatr       Date:  2011-03       Impact factor: 0.364
  5 in total

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