Mutational Spectrum of the CFTR Gene in the Kazakhstan Population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F22%3A10444546" target="_blank" >RIV/00064203:_____/22:10444546 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/22:10444546
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=PMHEIqMFbS" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=PMHEIqMFbS</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s13312-022-2518-1" target="_blank" >10.1007/s13312-022-2518-1</a>
Alternative languages
Result language
angličtina
Original language name
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population
Original language description
Objective To study the frequency and spectrum of CFTR gene variants in different ethnic groups of Kazakhstan. Methods We reviewed the records of 58 patients with cystic fibrosis. All the patients underwent molecular genetic analysis to reveal genotype-phenotype correlations. Results The median (IQR) age of the patients was 5.4 year (7 months, 18 year); 40% were diagnosed at the age of 5-10 year. The study identified 28 specific variants: p.Phe508del, the variant most common in the European population, was detected in 30 patients (51.7%). Variants other than p.Phe508del were revealed in 31% (21 patients). Conclusions We found a number of specific variants characteristic of the Kazakhstani population. A pronounced regression of disease symptoms was detected in patients with mild mutations; whereas in patients with severe mutations, therapy produced very little effect.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Indian Pediatrics
ISSN
0019-6061
e-ISSN
0974-7559
Volume of the periodical
59
Issue of the periodical within the volume
5
Country of publishing house
IN - INDIA
Number of pages
4
Pages from-to
380-383
UT code for WoS article
000805198600006
EID of the result in the Scopus database
2-s2.0-85130633781