Gallon et al., 2023 - Google Patents

Constitutional microsatellite instability, genotype, and phenotype correlations in constitutional mismatch repair deficiency

Gallon et al., 2023

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Document ID
1027511756692987180
Author
Gallon R
Phelps R
Hayes C
Brugieres L
Guerrini-Rousseau L
Colas C
Muleris M
Ryan N
Evans D
Grice H
Jessop E
Kunzemann-Martinez A
Marshall L
Schamschula E
Oberhuber K
Azizi A
Feldman H
Beilken A
Brauer N
Brozou T
Dahan K
Demirsoy U
Florkin B
Foulkes W
Januszkiewicz-Lewandowska D
Jones K
Kratz C
Lobitz S
Meade J
Nathrath M
Pander H
Perne C
Ragab I
Ripperger T
Rosenbaum T
Rueda D
Sarosiek T
Sehested A
Spier I
Suerink M
Zimmermann S
Zschocke J
Borthwick G
Wimmer K
Burn J
Jackson M
Santibanez-Koref M
Publication year
Publication venue
Gastroenterology

External Links

Snippet

Background & Aims Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hallmark and may …
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    • 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
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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
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