Detection of the germline KIT S476I mutation in a kindred with familial mastocytosis associated with gastrointestinal stromal tumors.

Autor: Peters F; Department of Dermatology, University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Fiebig B; Gemeinschaftspraxis für Humangenetik und Genetische Labore, Hamburg, Germany., Lundberg P; Diagnostic Hematology, Department of Laboratory Medicine, University Hospital Basel and University Basel, Basel, Switzerland., Jaspers NI; Department of Gastroenterology and Hepatology, University Hospital of Cologne, Cologne, Germany., Holzapfel B; Department of Gastroenterology and Hepatology, University Hospital of Cologne, Cologne, Germany., Ghadimi MPH; Department of General, Visceral and Tumor Surgery, University of Cologne, Cologne, Germany., Drebber U; Institute for Pathology, University of Cologne, Cologne, Germany., Tuchscherer A; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf, University of Cologne, Cologne, Germany., Ullrich R; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf, University of Cologne, Cologne, Germany; Center for Molecular Medicine, University of Cologne, Cologne, Germany., Hartmann K; Division of Allergy, Department of Dermatology, University Hospital Basel and University of Basel, Basel, Switzerland; Department of Biomedicine, University Hospital Basel and University of Basel, Basel, Switzerland., Tantcheva-Poór I; Department of Dermatology, University of Cologne, Cologne, Germany. Electronic address: iliana.tantcheva-poor@uk-koeln.de.

Publikováno v: The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2021 May; Vol. 9 (5), pp. 2123-2125.e1. Date of Electronic Publication: 2021 Jan 07.