Activation of cryptic splice sites in three patients with chronic granulomatous disease

Abstract Background Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase. As a result, the patients cannot generate sufficient amounts of reactive oxygen species required for killing path...

Full description

Bibliographic Details
Main Authors: Martin de Boer, Karin van Leeuwen, Mathias Hauri‐Hohl, Dirk Roos
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.854