Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F17%3A73582698" target="_blank" >RIV/61989592:15110/17:73582698 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1038/s41598-017-16988-w" target="_blank" >http://dx.doi.org/10.1038/s41598-017-16988-w</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41598-017-16988-w" target="_blank" >10.1038/s41598-017-16988-w</a>

Result language
angličtina
Original language name
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece
Original language description
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the brain and other vital organs. The genes implicated in disease development are TSC1 and TSC2. Here, we have performed mutational analysis followed by a genotype-phenotype correlation study based on the clinical characteristics of the affected individuals. Twenty unrelated probands or families from Greece have been analyzed, of whom 13 had definite TSC, whereas another 7 had a possible TSC diagnosis. Using direct sequencing, we have identifed pathogenic mutations in 13 patients/families (6 in TSC1 and 7 in TSC2), 5 of which were novel.
Czech name
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Czech description
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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
10603 - Genetics and heredity (medical genetics to be 3)

Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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