Literature DB >> 2210762

Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark.

M Schwartz1, H K Johansen, C Koch, N J Brandt.   

Abstract

We have investigated the frequency of the delta F508 mutation on cystic fibrosis (CF) chromosomes in Denmark. Of 304 chromosome tested, 86.8% have the delta F508 mutation. The majority of the chromosomes with this mutation are found on chromosomes with the XV2c/KM19 haplotype B (97.3%), whereas 15/16 chromosomes with haplotype C have another mutation, confirming that only very few mutations will account for the majority of CF genes in the Danish population.

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Year:  1990        PMID: 2210762     DOI: 10.1007/bf02428297

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


  12 in total

1.  Bone mineral status in 134 patients with cystic fibrosis.

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2.  Prediction of cellular immune responses against CFTR in patients with cystic fibrosis after gene therapy.

Authors:  Joanita Figueredo; Maria P Limberis; James M Wilson
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3.  Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis.

Authors:  P Garred; T Pressler; H O Madsen; B Frederiksen; A Svejgaard; N Høiby; M Schwartz; C Koch
Journal:  J Clin Invest       Date:  1999-08       Impact factor: 14.808

4.  Long-term survival and nutritional data in patients with cystic fibrosis treated in a Danish centre.

Authors:  M Nir; S Lanng; H K Johansen; C Koch
Journal:  Thorax       Date:  1996-10       Impact factor: 9.139

5.  Glucose tolerance in patients with cystic fibrosis: five year prospective study.

Authors:  S Lanng; A Hansen; B Thorsteinsson; J Nerup; C Koch
Journal:  BMJ       Date:  1995-09-09

6.  394delTT: a Nordic cystic fibrosis mutation.

Authors:  M Schwartz; M Anvret; M Claustres; H G Eiken; K Eiklid; C Schaedel; L Stolpe; L Tranebjaerg
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

7.  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

8.  Influence of the development of diabetes mellitus on clinical status in patients with cystic fibrosis.

Authors:  S Lanng; B Thorsteinsson; J Nerup; C Koch
Journal:  Eur J Pediatr       Date:  1992-09       Impact factor: 3.183

9.  High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study.

Authors:  M Schwartz; N Sørensen; N J Brandt; E Høgdall; T Holm
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

Review 10.  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

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