Article
[Molecular analysis of two cases of severe congenital neutropenia].
The Korean journal of laboratory medicine - 1 Apr 2010
Park Joonhong, Kim Myungshin, Lim Jihyang, Kim Yonggoo, Cho Bin, Park Yeon Joon, Han Kyungja
Abstract excerpt
Severe congenital neutropenia is a rare hematological disease characterized by a selective decrease in circulating neutrophils, maturation arrest of granulocytic precursors at the promyelocyte stage, and recurrence of infections. A 2-month-old male infant (patient A) and a 14-month-old female child (patient B) were referred to our hospital due to severe neutropenia. Sequencing analysis of ELA2 and HAX1 genes was...
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