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Kistol et al., 2023 - Google Patents

Leigh Syndrome: spectrum of molecular defects and clinical features in Russia

Kistol et al., 2023

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Document ID
12700393419345093043
Author
Kistol D
Tsygankova P
Krylova T
Bychkov I
Itkis Y
Nikolaeva E
Mikhailova S
Sumina M
Pechatnikova N
Kurbatov S
Bostanova F
Migiaev O
Zakharova E
Publication year
Publication venue
International Journal of Molecular Sciences

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Snippet

Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article, we present …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
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    • G06F19/28—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
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    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
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    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
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