Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G→A and 14484T→C LHON mutations ar...

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Main Authors: Hudson, Gavin , Carelli, Valerio , Spruijt, Liesbeth , Gerards, Mike , Mowbray, Catherine , Achilli, Alessandro , Pyle, Angela , Elson, Joanna , Howell, Neil , La Morgia, Chiara , Valentino, Maria Lucia , Huoponen, Kirsi , Savontaus, Marja-Liisa , Nikoskelainen, Eeva , Sadun, Alfredo A. , Salomao, Solange R. , Belfort Jr., Rubens , Griffiths, Philip , Man, Patrick Yu Wai , de Coo, Rene F. M. , Horvath, Rita , Zeviani, Massimo , Smeets, Hubert J. T. , Torroni, Antonio , Chinnery, Patrick F. 
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950812/
https://ncbi.nlm.nih.gov/pubmed/17668373
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