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A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.
Zhang W, Xu A, Li Y, Zhao S, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Nan Y, You H, Jia J, Ou X, Huang J; China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group. Zhang W, et al. Among authors: zhao x, zhao s. Liver Int. 2019 Jun;39(6):1120-1127. doi: 10.1111/liv.14013. Epub 2018 Dec 28. Liver Int. 2019. PMID: 30500107
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T, Zhang W, Xu A, Li Y, Zhou D, Zhang B, Li X, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Xu H, Zheng J, Zhao R, Zhu L, Dong Y, Lu L, Chen Y, Long J, Zheng S, Wang W, You H, Jia J, Ou X, Huang J. Lv T, et al. Among authors: zhao x, zhao r. J Med Genet. 2018 Oct;55(10):650-660. doi: 10.1136/jmedgenet-2018-105348. Epub 2018 Aug 30. J Med Genet. 2018. PMID: 30166352 Clinical Trial.
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