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SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10048394

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update

About this item

Full title

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2023-03, Vol.14 (3), p.646

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes the repression of SDHC transcription and depletion of SDHC protein levels through a mechanism desc...

Alternative Titles

Full title

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10048394

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10048394

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes14030646

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