Article
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Journal of medical genetics - 1 Oct 2018
Lv Tingxia, Zhang Wei, Xu Anjian, Li Yanmeng, Zhou Donghu, Zhang Bei, Li Xiaojin, Zhao Xinyan, Wang Yu, Wang Xiaoming, Duan Weijia, Wang Qianyi, Xu Hexiang, Zheng JiShun, Zhao Rongrong, Zhu Longdong, Dong Yuwei, Lu Lungen, Chen Yongpeng, Long Jiang, Zheng Sujun, Wang Wei, You Hong, Jia Jidong, Ou Xiaojuan, Huang Jian
Abstract excerpt
INTRODUCTION: Hereditary haemochromatosis (HH) caused by a homozygous p.C282Y mutation in haemochromatosis (HFE) gene has been well documented. However, less is known about the causative non-HFE mutation. We aimed to assess mutation patterns of haemochromatosis-related genes in Chinese patients with primary iron overload. METHODS: Patients were preanalysed for mutations in the classic HH-related genes: HFE, HJV,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.