Work

Monoallelic expression in human immune cells: linking genotype to phenotype

Year: 2025
Type: article
Abstract: Patients with an inborn error of immunity (IEI) often show a complete penetrance of their disease-causing mutation, whereas other forms of IEI show a family pattern where many family members carrying the same mutation remain unaffected. The underlying mechanism, differential allele-specific expression, was recently and elegantly demonstrated by Stewart et al.
Language: English
Subfield: Immunology
Open Access status: hybrid
Estimated APC paid: $7,030
OpenAlex ID: W4408365102
FWCI: 0.295
Cites: 8
Cited by: 1
Related to: 10