Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.
Arun Kumar ArunachalamAnandan SenthamizhselviSuresh HemamaliniEunice S EdisonAnu KorulaN A FouziaBiju GeorgeVikram MathewsPoonkuzhali BalasubramanianPublished in: Journal of clinical pathology (2018)
The widespread distribution of mutations suggests the need to screen all the exons in ELANE gene for proper characterisation of the genotype.