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-Reference-Cited by-同舟云学术

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

Published:2001-12 Issue:6 Volume:69 Page:1186-1197
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Germline SDHD mutation in familial phaeochromocytoma;Astuti;Lancet,2001

2. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibilty to familial pheochromocytoma and to familial paraganglioma;Astuti;Am J Hum Genet,2001

3. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss;Badenhop;Genes Chromosomes Cancer,2001

4. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma;Baysal;Science,2000

5. A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumor suppressor region;Baysal;Eur J Hum Genet,2001

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