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Article

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

European journal of human genetics : EJHG - 1 Jan 2014

Pantaleo Maria A, Astolfi Annalisa, Urbini Milena, Nannini Margherita, Paterini Paola, Indio Valentina, Saponara Maristella, Formica Serena, Ceccarelli Claudio, Casadio Rita, Rossi Giulio, Bertolini Federica, Santini Donatella, Pirini Maria G, Fiorentino Michelangelo, Basso Umberto, Biasco Guido

Abstract excerpt

Mutations of genes encoding the subunits of the succinate dehydrogenase (SDH) complex were described in KIT/PDGFRA wild-type GIST separately in different reports. In this study, we simultaneously sequenced the genome of all subunits, SDHA, SDHB, SDHC, and SDHD in a larger series of KIT/PDGFRA wild-type GIST in order to evaluate the frequency of the mutations and explore their biological role. SDHA, SDHB, SDHC,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23612575
DOI: 10.1038/ejhg.2013.80
PMCID: PMC3865408

Genes

SDHA
KIT
PDGFRA
SDHB
SDHC
SDHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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