ArticleJournal of medical biochemistry2015
Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.
Article in Journal of medical biochemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.Molecular genetics & genomic medicine · 2019Article
- Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report.Croatian medical journal · 2019Article
- Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.BMC medical genetics · 2019Article
- Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.BMC genomics · 2018Article
- Pediatric Laboratory Medicine: Some Aspects of Obesity, Metabolic Syndrome, Neonatal Screening, Reference and Critical Values.Journal of medical biochemistry · 2015Article
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7 authors.
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Abstract
backgroundIn this study the authors present an update to the
methodsDepending on the preceding analysis, four different mutation detection methods were used. A commercial assay targeting the most common CF-causing mutations was performed as the first test followed by an allele specific PCR for CFTRdele2,3(21kb), Sanger sequencing and MLPA analysis of the coding region of the
resultsIn our recent study 27 different mutations were detected, including 2 novel ones (c.1037_1038insA and c.1394C>T). Besides F508del (c.1521_1523delCTT), the following mutations were found at a frequency of ≥ 4.0%: W1282X (c.3846G>A), N1303K (c.3909C>G), CFTRdele2,3(21kb) (c.54-5940_273+10250del21kb) and 2184insA (c.2052_2053insA). In addition, four mutations (G542X, Y1092X, 621+1G>T, and 2143delT) were found in more than one allele.
conclusionsThe updated database of Hungarian mutations not only enables to increase the efficiency of the existing diagnostic approach, but also provides a further refined basis for the introduction of the molecular newborn screening (NBS) program in Hungary.
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