Article
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.
Pediatric blood & cancer - 1 Aug 2010
Newburger Peter E, Pindyck Talia N, Zhu Zhiqing, Bolyard Audrey Anna, Aprikyan Andrew A G, Dale David C, Smith Gary D, Boxer Laurence A
Abstract excerpt
BACKGROUND: Cyclic neutropenia (CN) and severe congenital neutropenia (SCN) are disorders of neutrophil production that differ markedly in disease severity. Mutations of the ELANE gene (the symbol recently replacing ELA2) are considered largely responsible for most cases of CN and SCN, but specific mutations are typically associated with one or the other. PROCEDURE: We performed ELANE genotyping on all...
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