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Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
J Med Genet. 2020 May;57(5):308-315. doi: 10.1136/jmedgenet-2019-106520. Epub 2019 Nov 29.
J Med Genet. 2020.
PMID: 31784484
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Houlleberghs H, Goverde A, Lusseveld J, Dekker M, Bruno MJ, Menko FH, Mensenkamp AR, Spaander MCW, Wagner A, Hofstra RMW, Te Riele H.
Houlleberghs H, et al. Among authors: lusseveld j.
PLoS Genet. 2017 May 22;13(5):e1006765. doi: 10.1371/journal.pgen.1006765. eCollection 2017 May.
PLoS Genet. 2017.
PMID: 28531214
Free PMC article.
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Extracellular loops matter - subcellular location and function of the lysine transporter Lyp1 from Saccharomyces cerevisiae.
Van't Klooster JS, Bianchi F, Doorn RB, Lorenzon M, Lusseveld JH, Punter CM, Poolman B.
Van't Klooster JS, et al. Among authors: lusseveld jh.
FEBS J. 2020 Oct;287(20):4401-4414. doi: 10.1111/febs.15262. Epub 2020 Mar 11.
FEBS J. 2020.
PMID: 32096906
Free PMC article.
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