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Page 1
Reduced Abundance and Subverted Functions of Proteins in Prion-Like Diseases: Gained Functions Fascinate but Lost Functions Affect Aetiology.
Int J Mol Sci. 2017 Oct 24;18(10):2223. doi: 10.3390/ijms18102223.
Int J Mol Sci. 2017.
PMID: 29064456
Free PMC article.
Review.
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.
Lahola-Chomiak AA, Footz T, Nguyen-Phuoc K, Neil GJ, Fan B, Allen KF, Greenfield DS, Parrish RK, Linkroum K, Pasquale LR, Leonhardt RM, Ritch R, Javadiyan S, Craig JE, Allison WT, Lehmann OJ, Walter MA, Wiggs JL.
Lahola-Chomiak AA, et al. Among authors: nguyen phuoc k.
Hum Mol Genet. 2019 Apr 15;28(8):1298-1311. doi: 10.1093/hmg/ddy429.
Hum Mol Genet. 2019.
PMID: 30561643
Free PMC article.
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