A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease

Age-related macular degeneration (AMD) and Alzheimer’s disease (AD) are degenerative, multifactorial diseases involving age-related accumulation of extracellular deposits linked to dysregulation of protein homeostasis. Here, we strengthen the evidence that an nsSNP (p.Ala25Thr) in the cysteine prote...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Butler, Joe M., Sharif, Umar, Ali, Manir, McKibbin, Martin, Thompson, Joseph P., Gale, Richard, Yang, Yit C., Inglehearn, Chris, Paraoan, Luminita
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4460273/
https://ncbi.nlm.nih.gov/pubmed/25893795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1552-7
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