Genotype-phenotype correlation in Czech patients with tuberous sclerosis complex
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F17%3AN0000103" target="_blank" >RIV/00098892:_____/17:N0000103 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Genotype-phenotype correlation in Czech patients with tuberous sclerosis complex
Original language description
Tuberous sclerosis complex is an autosomal dominant disorder manifested by benign tumors in many tissues and organs (skin, brain, kidney, heart etc.). Pathogenic mutations are in TSC1 and TSC2 gene. This study is focused on analysis of TSC genes in selected group of patients and subsequent genotype/phenotype correlation
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů