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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

Hereditary paragangliomas are usually benign tumors of the autonomic nervous system that are composed of cells derived from the primitive neural crest. Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial respiratory c...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Gimenez-Roqueplo, Anne-Paule, Favier, Judith, Rustin, Pierre, Mourad, Jean-Jacques, Plouin, Pierre-François, Corvol, Pierre, Rötig, Agnès, Jeunemaitre, Xavier
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The American Society of Human Genetics 2001
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235531/
https://ncbi.nlm.nih.gov/pubmed/11605159
Tagiau: Ychwanegu Tag
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