Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics

Author:

Soltysova Andrea123ORCID,Tothova Tarova Eva1,Ficek Andrej1,Baldovic Marian1,Polakova Helena2,Kayserova Hana4,Kadasi Ludevit123

Affiliation:

1. Department of Molecular Biology, Faculty of Natural Sciences; Comenius University; Mlynska dolina Bratislava 842 15 Slovakia

2. Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences; Dubravska cesta 9, Bratislava 845 05 Slovakia

3. Institute of Virology, Biomedical Research Center, Slovak Academy of Sciences; Dubravska cesta 9, Bratislava 845 05 Slovakia

4. Center for Cystic Fibrosis; Department of Pediatric Pneumology Slovak Medical University; Krajinska 91, Bratislava 825 56 Slovakia

Publisher

Wiley

Subject

Genetics (clinical),Pulmonary and Respiratory Medicine,Immunology and Allergy

Reference26 articles.

1. Cystic Fibrosis Mutation Database http://www.genet.sickkids.on.ca/StatisticsPage.html

2. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA;Riordan;Science.,1989

3. Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients;Kádasi Ľ;Gene Geogr.,1997

4. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Biomed Mutation Analysis Consortium;Estivill;Hum Mutat.,1997

5. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe;Dörk;Hum Genet.,2000

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