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Stable calcium-free myocilin olfactomedin domain variants reveal challenges in differentiating between benign and glaucoma-causing mutations

Nonsynonymous gene mutations can be beneficial, neutral, or detrimental to the stability, structure, and biological function of the encoded protein, but the effects of these mutations are often not readily predictable. For example, the β-propeller olfactomedin domain of myocilin (mOLF) exhibits a co...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Hill, Shannon E., Kwon, Michelle S., Martin, Mackenzie D., Suntharalingam, Amirthaa, Hazel, Anthony, Dickey, Chad A., Gumbart, James C., Lieberman, Raquel L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6709634/
https://ncbi.nlm.nih.gov/pubmed/31270212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.009419
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