Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7072" target="_blank" >RIV/00064203:_____/11:7072 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/11:7072
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21296036" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21296036</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
Original language description
Background: The aim of this study was characterization of an updated distribution of CFTR mutations in a representative cohort of 40 CF patients with the classical form of the disease drawn from Eastern Hungary. Due to the homogeneity of the Hungarian population our data are generally applicable to other regions of the country, including the sizeable diaspora. Methods: We utilized the recommended "cascade" CFTR mutation screening approach, initially using a commercial assay, followed by examination of the common "Slavic" deletion CFTRdele2,3(21 kb). Subsequently, the entire CFTR coding region of the CFTR gene was sequenced in patients with yet unidentified mutations. Results: The Elucigene CF29 (TM) v2 assay detected 81.25% of all CF causing mutations.An addition of the CFTRdele2,3(21 kb) increased the mutation detection rate to 86.25%. DNA sequencing enabled us to identify mutations on 79/80 CF alleles. Mutations [CFTRdele2,3(21 kb), p.Gln685ThrfsX4 (2184insA) were found at an unusua
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FC - Pneumology
OECD FORD branch
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Project
<a href="/en/project/NS9986" target="_blank" >NS9986: Optimalization of newborn screening of cystic fibrosis</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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