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Rapid and Sensitive Method for Detection of Y402, H402, I62, and V62 Variants of Complement Factor H in Human Plasma Samples Using Mass Spectrometry

PURPOSE: Variations in the complement factor H (CFH) gene are tightly associated with age-related macular degeneration (AMD) across diverse populations. Of the many nonsynonymous coding variants in CFH, two are most strongly associated with increased risk of AMD: isoleucine 62 to valine (I62V) and t...

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Библиографические подробности
Главные авторы: Kelly, Una, Rickman, Catherine Bowes, Postel, Eric A., Hauser, Michael A., Hageman, Gregory S., Arshavsky, Vadim Y., Skiba, Nikolai P.
Формат: Artigo
Язык:Inglês
Опубликовано: 2008
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2808136/
https://ncbi.nlm.nih.gov/pubmed/19029036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.08-2782
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