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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

Author:

Anne-Paule Gimenez-Roqueplo,Judith Favier,Pierre Rustin,Jean-Jacques Mourad,Pierre-François Plouin,Pierre Corvol,Agnès Rötig,Xavier Jeunemaitre

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

December 2001

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