Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, MacDonald ME, Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D, Murali M, Sands B, Stone JH, Gregersen PK, Pillai S. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature 2010, 466: 243-247. PMID: 20555325, PMCID: PMC2900412, DOI: 10.1038/nature09115.Peer-Reviewed Original ResearchMeSH KeywordsAcetylationAcetylesteraseAllelesAnimalsAntibodies, AntinuclearArthritis, RheumatoidAutoimmune DiseasesAutoimmunityBiocatalysisB-LymphocytesCarboxylic Ester HydrolasesCase-Control StudiesCell LineDiabetes Mellitus, Type 1EuropeExonsGenetic Predisposition to DiseaseGerm-Line MutationHumansMiceN-Acetylneuraminic AcidOdds RatioPolymorphism, Single NucleotideSample SizeSequence Analysis, DNA
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