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PMID:21224366
| Citation |
Kunst, HP, Rutten, MH, de Mönnink, JP, Hoefsloot, LH, Timmers, HJ, Marres, HA, Jansen, JC, Kremer, H, Bayley, JP and Cremers, CW (2011) SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clin. Cancer Res. 17:247-54 |
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| Abstract |
Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate dehydrogenase subunits. We recently described mutations in a previously uncharacterized human gene, now called SDHAF2, and showed that this was the long-sought "imprinted" PGL2 gene. Here, we present a new branch of the Dutch SDHAF2 (PLG2-SDH5) family. |
| Links |
PubMed Online version:10.1158/1078-0432.CCR-10-0420 |
| Keywords |
Adult; Female; Genotype; Head and Neck Neoplasms/genetics; Humans; Male; Middle Aged; Mutation; Neoplastic Syndromes, Hereditary/genetics; Paraganglioma/genetics; Pedigree; Protein Subunits/genetics; Succinate Dehydrogenase/genetics |
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Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
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See also
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