Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin
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DOI: 10.1136/jclinpath-2018-205235
Abstract: Aims Congenital and cyclical neutropenia are rare inherited diseases that result in recurrent life-threatening bacterial infections due to a deficiency of mature neutrophils. Cyclical neutropenia is usually caused by heterozygous ELANE mutations while congenital neutropenia… read more here.
Keywords: spectrum elane; mutations congenital; congenital neutropenia; elane ... See more keywords