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| rdf:type
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| rdfs:seeAlso
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| Description
| - Background: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. Methods: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1 (TM) assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions. Results: We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the Czech CF population. Altogether 91 different CFTR mutations, of which 20 were novel, were detected. One case of de novo mutation and a novel polymorphism was revealed. Conclusion: The commercial assay achieved 90.7%, the MLPA added 1.0% and sequencing increased the detection rate by 7.8%. These comprehensive data provide a basis for the improvement of CF DNA diagnostics and/or newborn screening in our country. In addition, they are relevant to related Central European populations with lower mutation detection rates, as well as to the sizeable North American %22Bohemian diaspora%22.
- Background: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. Methods: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1 (TM) assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions. Results: We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the Czech CF population. Altogether 91 different CFTR mutations, of which 20 were novel, were detected. One case of de novo mutation and a novel polymorphism was revealed. Conclusion: The commercial assay achieved 90.7%, the MLPA added 1.0% and sequencing increased the detection rate by 7.8%. These comprehensive data provide a basis for the improvement of CF DNA diagnostics and/or newborn screening in our country. In addition, they are relevant to related Central European populations with lower mutation detection rates, as well as to the sizeable North American %22Bohemian diaspora%22. (en)
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| Title
| - Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations (en)
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| skos:prefLabel
| - Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations (en)
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| skos:notation
| - RIV/00216208:11130/13:10209718!RIV15-MSM-11130___
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
| - Krebsová, Alice
- Dvořáková, Lenka
- Piskáčková, Tereza
- Krulišová, Veronika
- Balaščaková, Miroslava
- Štambergová, Alexandra
- Turnovec, Marek
- Skalická, Veronika
- Koudová, Monika
- Vávrová, Věra
- Macek jr., Milan
- Fila, Libor
- Macek, Milan
- Bartošová, Jana
- Skalická, Veronika
- Křenková, Petra
- Zemková, Daniela
- Norambuena Baraquet, Patricia Alejandra
- Čamajová, Jana
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/00216208:11130/13:10209718
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - Newborn screening; Central Europe; De novo CFTR mutation; Czech Republic; Cystic fibrosis (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - Journal of Cystic Fibrosis
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| http://linked.open...in/vavai/riv/obor
| |
| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
| |
| http://linked.open...UplatneniVysledku
| |
| http://linked.open...v/svazekPeriodika
| |
| http://linked.open...iv/tvurceVysledku
| - Koudová, Monika
- Piskáčková, Tereza
- Vávrová, Věra
- Dvořáková, Lenka
- Fila, Libor
- Macek, Milan
- Bartošová, Jana
- Skalická, Veronika
- Zemková, Daniela
- Balaščaková, Miroslava
- Křenková, Petra
- Kučerová, Tereza
- Krulišová, Veronika
- Holubová, Andrea
- Krebsová, Alice
- Libik Malgorzata, Dorota
- Norambuena Baraquet, Patricia Alejandra
- Turnovec, Marek
- Čamajová, Jana
- Štambergová, Alexandra
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| http://linked.open...ain/vavai/riv/wos
| |
| issn
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| number of pages
| |
| http://bibframe.org/vocab/doi
| - 10.1016/j.jcf.2012.12.002
|
| http://localhost/t...ganizacniJednotka
| |
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