Gene Mosaicism Screening Using Single Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

Diagnosis of systemic autoinflammatory diseases (SAID) is often difficult to achieve and can delay the start of proper treatments and result in irreversible organ damage. In several patients with dominantly-inherited SAID, postzygotic mutations have been detected as the disease-causing gene defects. Mutations with allele frequencies

Source: Journal of Molecular Diagnostics - August 19, 2019 Category: Pathology Authors: Benjamin Kant, Ellen C. Carbo, Iris Kokmeijer, Jelske J.M. Oosterman, Joost Frenkel, Morris A. Swertz, Johannes Kristian Ploos van Amstel, Juan Ignacio Ar óstegui, Marco J. Koudijs, Mariëlle Elisabeth van Gijn Tags: Technical Advance Source Type: research