Literature DB >> 2210758

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.

A Reis1, S Bremer, M Schlösser, M Dueck, I Böhm, J Hundrieser, M Macek, M Stuhrmann, M Wagner, T Dörk.   

Abstract

We have measured the frequency of the delta F508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the delta F508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype.

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Year:  1990        PMID： 2210758     DOI： 10.1007/bf02428292

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


  6 in total

1.  Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Authors:  T Dörk; T Neumann; U Wulbrand; B Wulf; N Kälin; G Maass; M Krawczak; H Guillermit; C Ferec; G Horn
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

2.  Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Authors:  J Reiss; D N Cooper; J Bal; R Slomski; G R Cutting; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

Authors:  M Schloesser; S Arleth; U Lenz; R M Bertele; J Reiss
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  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

5.  Mutation analysis in the diagnosis of cystic fibrosis.

Authors:  T Deufel; H Rabe; T Wieser; T Meitinger; J Rosenecker; R Bertele-Harms; K Harms; H B Hadorn; A A Roscher
Journal:  Eur J Pediatr       Date:  1993-11       Impact factor: 3.183

6.  Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  T Dörk; U Wulbrand; T Richter; T Neumann; H Wolfes; B Wulf; G Maass; B Tümmler
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132
  6 in total

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