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Quantitative analysis will be performed in R (the R Project, V.4.2.2.) and Stata V.16.1 (StataCorp, The College Station, TX, USA). We will summarise the characteristics of the study, the number of patients and the information concerning the treatment option descriptively. When quantitative analysis is not possible, we will describe the results narratively. All outcome measures of interest will be scaled for the data synthesis to achieve a uniform scale.
Emerging Technologies: Data Systems and Devices Abstract OBJECTIVE Multiple genome-wide association studies have identified a strong genetic linkage between the SKAP2 locus and type 1 diabetes (T1D), but how this leads to disease remains obscure. Here, we characterized the functional consequence of a novel SKAP2 coding mutation in a patient with T1D to gain further insight into how this impacts immune tolerance.
Original Research Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation Niklas Rutsch, Chester E. Chamberlain, Wesley Dixon, Lauren Spector, Lisa R. Letourneau-Freiberg, Wint W. Lwin, Louis H. Philipson, Alexander Zarbock, Karline Saintus, Juehu Wang, Michael S. German, Mark S. Anderson, Clifford A.
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