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Cortini et al., 2017 - Google Patents

Clinical application of NGS tools in the diagnosis of collagenopathies

Cortini et al., 2017

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Document ID
3896507686630117326
Author
Cortini F
Marinelli B
Pesatori A
Seia M
Seresini A
Giannone V
Bassotti A
Publication year
Publication venue
Exploratory Research and Hypothesis in Medicine

External Links

Snippet

Collagenopathies are heterogeneous diseases that affect collagen proteins, which are ubiquitous in the body and characterized by the distinctive amino acid sequence Gly-XY. Next-generation sequencing (NGS) has gained an increasingly essential role in improving …
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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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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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    • C12Q1/6813—Hybridisation assays
    • C12Q1/6834—Nucleic acid analysis involving immobilisation; Immobilisation characterised by the carrier or coupling agent
    • C12Q1/6837—Nucleic acid analysis involving immobilisation; Immobilisation characterised by the carrier or coupling agent characterised by the use of probe arrays or probe chips
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