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The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway |
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| Authors: | Gimenez-Roqueplo A P Favier J Rustin P Mourad J J Plouin P F Corvol P Rötig A Jeunemaitre X |
| Institution: | Département de Génétique Moléculaire, H?pital Européen Georges Pompidou, Assistance Publique/H?pitaux de Paris, Paris, France. Anne-Paule.GIMENEZ@hop.egp.ap-hop-paris.fr |
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| 本文献已被 PubMed 等数据库收录！ | |