Ontology highlight
ABSTRACT:
SUBMITTER: Pantaleo MA
PROVIDER: S-EPMC3865408 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Pantaleo Maria A MA Astolfi Annalisa A Urbini Milena M Nannini Margherita M Paterini Paola P Indio Valentina V Saponara Maristella M Formica Serena S Ceccarelli Claudio C Casadio Rita R Rossi Giulio G Rossi Giulio G Bertolini Federica F Santini Donatella D Pirini Maria G MG Fiorentino Michelangelo M Basso Umberto U Biasco Guido G
European journal of human genetics : EJHG 20130424 1
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, and SDHD were sequenced on the available samples obtained from 34 KIT/PDGFRA wild-type ...[more]