Article
Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
Chinese medical journal - 5 Dec 2009
Lu Gen, Xie Zheng-de, Shen Kun-ling, Ye Ling-jun, Wu Run-hui, Liu Chun-yan, Jin Ying-kang, Yang Shuang
Abstract excerpt
BACKGROUND: Recent studies have reported germline mutations in the perforin gene (PRF1) in some types of hemophagocytic lymphohistiocytosis (HLH). However, the prevalence of PRF1 mutations in HLH in Chinese pediatric patients has not been extensively studied. The aim of this study was to investigate the prevalence of mutations and sequence variations in the PRF1 gene in Chinese pediatric patients with HLH....
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