Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.
Acres, Meghan J; Gothe, Florian; Grainger, Angela; Skelton, Andrew J; Swan, David J; Willet, Joseph D P; Leech, Suzy; Galcheva, Sonya; Iotova, Violeta; Hambleton, Sophie; Engelhardt, Karin R.
J Allergy Clin Immunol
; 2018 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-30205186
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Genetic hitchhiking in spatially extended populations.
A new twist in the coil: functions of the coiled-coil domain of structural maintenance of chromosome (SMC) proteins.
Multimerization properties of PiggyMac, a domesticated piggyBac transposase involved in programmed genome rearrangements.
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An adaptive Cauchy differential evolution algorithm for global numerical optimization.