Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.

Tingxia LvWei ZhangAnjian XuYanmeng LiDonghu ZhouBei ZhangXiaojin LiXinyan ZhaoYu WangXiaoming WangWeijia DuanQianyi WangHexiang XuJiShun ZhengRongrong ZhaoLongdong ZhuYuwei DongLungen LuYongpeng ChenJiang LongSujun ZhengWei WangHong YouJidong JiaXiaojuan OuJian Huang

Published in: Journal of medical genetics (2018)

Compound heterozygous mutations of HJV or combined heterozygous mutations of BMP/SMAD pathway genes, marked by HJV variants in the signal peptide region, may represent a novel aetiological factor for HH.

Keyphrases

early onset
copy number
mesenchymal stem cells
gene expression