High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023761%3A_____%2F15%3A%230000533" target="_blank" >RIV/00023761:_____/15:#0000533 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/15:43910294 RIV/00216208:11110/15:10316395 RIV/00216208:11130/15:10316395 RIV/00064203:_____/15:10316395 RIV/00064165:_____/15:10316395
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism
Original language description
We studied the distribution of genetic causes of CHI in a Czech population. Countrywide collection of patients with CHI included 40 subjects (12 females, median age of diagnosis, 1 wk [interquartile range, 1-612 wk]). We sequenced the ABCC8, KCNJ11, GLUD1, GCK, HADH, UCP2, SLC16A1, HNF4A, and HNF1A genes and investigated structural changes in the ABCC8 gene. We functionally tested novel variants in the ABCC8 gene by Rb86+ efflux assay and novel variants in the HNF1A gene by transcriptional activation and DNA-binding tests.
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
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/NT11402" target="_blank" >NT11402: Genetic investigation of monogenic diabetes in the Czech Republic: Evaluation of clinical symptoms, treatment and quality of life</a><br>
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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