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

Leigh syndrome (LS) affects 1/40,000 newborn infants in the worldwide population and is characterized by the presence of developmental delay and lactic acidosis and by a mean life expectancy variously estimated at 3–5 years. Saguenay–Lac-Saint-Jean (SLSJ) cytochrome oxidase (COX) deficiency (LS Fren...

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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2001
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235273/
https://ncbi.nlm.nih.gov/pubmed/11156535
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