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

Anne‐Paule Gimenez‐Roqueplo(Délégation Paris 5), Xavier Jeunemaı̂tre(Délégation Paris 5), Judith Favier(Inserm), Jean‐Jacques Mourad(Institut Hospitalier Franco Britannique), Pierre‐François Plouin(Hôpital Broussais), Pierre Rustin(Inserm), Pierre Corvol(Collège de France), Agnès Rötig(Université Paris Cité)
The American Journal of Human Genetics
December 1, 2001
Cited by 368


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