Ontology highlight
ABSTRACT:
SUBMITTER: Merling RK
PROVIDER: S-EPMC5727772 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Blood advances 20161228 4
Pseudogenes are duplicated genes with mutations rendering them nonfunctional. For single-gene disorders with homologous pseudogenes, the pseudogene might be a target for genetic correction. Autosomal-recessive p47<sup>phox</sup>-deficient chronic granulomatous disease (p47-CGD) is a life-threatening immune deficiency caused by mutations in <i>NCF1</i>, a gene with 2 pseudogenes, <i>NCF1B</i> and <i>NCF1C</i>. The most common <i>NCF1</i> mutation, a GT deletion (ΔGT) at the start of exon 2 (>90% ...[more]