Literature DB >> 1976592

First analysis of the F508 deletion in cystic fibrosis patients from the GDR.

K Grade1, K Will, R Szibor, J Gedschold, R Brückner, I Bauer, K Giermann, H Gorki, J Hein, U Brell.   

Abstract

Cystic fibrosis (CF) patients (n = 157) from the GDR were analysed for the occurrence of the recently discovered 3bp deletion causing CF. About 50% of all investigated patients were homozygotes and about 30% heterozygotes for this deletion. Of the analysed CF chromosomes from these patients, 62% carry the deletion, which is in strong linkage disequilibrium with the KM19 restriction fragment length polymorphism allele 2 and the 1/2 XV2c/KM19 haplotype.

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Year:  1990        PMID: 1976592     DOI: 10.1007/bf02428280

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


  4 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.  Geographic distribution and origin of CFTR mutations in Germany.

Authors:  B Tümmler; T Storrs; V Dziadek; T Dörk; T Meitinger; A Golla; R M Bertele-Harms; H K Harms; E Schröder; A Claass; J Rutjes; R Schneppenheim; I Bauer; K Breuel; M Stuhrmann; J Schmidtke; M Lindner; A Eigel; J Horst; R Kaiser; M J Lentze; K Schmidt; H von der Hardt; X Estivill
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

3.  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

4.  Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.

Authors:  L Kádasi; J Gécz; J Matúsek; T Krivusová; V Ferák; M Devoto; J Hruskovic; G Romeo
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

  4 in total

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