Publications
Export 3 results:
Filters: Keyword is Heterozygote and Author is Mace, Emily M [Clear All Filters]
Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 ;102(6):1126-1142.
. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 ;142(2):605-617.e7.
.