Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

BACKGROUND: Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 and altered serine metabolism has been established previously. METHODS: Through exome sequence analysis of a patient w...

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Detalhes bibliográficos
Publicado no:N Engl J Med
Main Authors: Gantner, Marin L., Eade, Kevin, Wallace, Martina, Handzlik, Michal K., Fallon, Regis, Trombley, Jennifer, Bonelli, Roberto, Giles, Sarah, Harkins-Perry, Sarah, Heeren, Tjebo F.C., Sauer, Lydia, Ideguchi, Yoichiro, Baldini, Michelle, Scheppke, Lea, Dorrell, Michael I., Kitano, Maki, Hart, Barbara J., Cai, Carolyn, Nagasaki, Takayuki, Badur, Mehmet G., Okada, Mali, Woods, Sasha M., Egan, Catherine, Gillies, Mark, Guymer, Robyn, Eichler, Florian, Bahlo, Melanie, Fruttiger, Marcus, Allikmets, Rando, Bernstein, Paul S., Metallo, Christian M., Friedlander, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7685488/
https://ncbi.nlm.nih.gov/pubmed/31509666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1815111
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