A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay–Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16-Reference-Cited by-同舟云学术

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A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay–Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16

Published:2001-02 Issue:2 Volume:68 Page:397-409
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lee Nana,Daly Mark J.,Delmonte Terrye,Lander Eric S.,Xu Fenghao,Hudson Thomas J.,Mitchell Grant A.,Morin Charles C.,Robinson Brian H.,Rioux John D.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency;Bourgeron;Nat Genet,1995

2. Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat;Brinkmann;Am J Hum Genet,1998

3. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease;Casari;Cell,1998

4. Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations;Couture;Atherosclerosis,1999

5. Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome;Dahl;Am J Hum Genet,1998

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1. Expression signature of the Leigh syndrome French-Canadian type;Molecular Genetics and Metabolism Reports;2022-03

2. Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability;Journal of Medical Genetics;2021-04-28

3. Modular biogenesis of mitochondrial respiratory complexes;Mitochondrion;2020-01

4. A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome;Cell Reports;2015-11

5. Mitochondrial transcript maturation and its disorders;Journal of Inherited Metabolic Disease;2015-05-28

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