Article
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.
Genetic epidemiology - 1 Sept 2016
Rosenthal Elisabeth A, Makaryan Vahagn, Burt Amber A, Crosslin David R, Kim Daniel Seung, Smith Joshua D, Nickerson Deborah A, Reiner Alex P, Rich Stephen S, Jackson Rebecca D, Ganesh Santhi K, Polfus Linda M, Qi Lihong, Dale David C, Jarvik Gail P
Abstract excerpt
Neutrophils are a key component of innate immunity. Individuals with low neutrophil count are susceptible to frequent infections. Linkage and association between congenital neutropenia and a single rare missense variant in TCIRG1 have been reported in a single family. Here, we report on nine rare missense variants at evolutionarily conserved sites in TCIRG1 that are associated with lower absolute neutrophil count...
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