Article
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.
Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Jan 2011
Kunst Henricus P M, Rutten Martijn H, de Mönnink Jan-Pieter, Hoefsloot Lies H, Timmers Henri J L M, Marres Henri A M, Jansen Jeroen C, Kremer Hannie, Bayley Jean-Pierre, Cremers Cor W R J
Abstract excerpt
PURPOSE: 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...
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