Literature DB >> 28110135

Identification of hereditary hemochromatosis pedigrees and a novel SLC40A1 mutation in Chinese population.

Peng An1, Li Jiang2, Yu Guan2, Hao Wang2, Jiaming Wang2, Yongmei Tian3, Wenjie Yang3, Yanbo Shi2, Jun Xue4, Junxia Min5, Fudi Wang6.   

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Year:  2017        PMID： 28110135     DOI： 10.1016/j.bcmd.2017.01.002

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  3 in total

1.  Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Authors:  Wei Zhang; Yanmeng Li; Anjian Xu; Qin Ouyang; Liyan Wu; Donghu Zhou; Lina Wu; Bei Zhang; Xinyan Zhao; Yu Wang; Xiaoming Wang; Weijia Duan; Qianyi Wang; Hong You; Jian Huang; Xiaojuan Ou; Jidong Jia
Journal:  Orphanet J Rare Dis       Date:  2022-06-06       Impact factor: 4.303

2.  The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia.

Authors:  Hongfei Wu; Xiang Ren; Meili Ge; Peiyuan Dong; Shichong Wang; Huiming Yi; Xingxin Li; Jiali Huo; Xuan Zheng; Mengying Gao; Jinbo Huang; Jing Zhang; Min Wang; Peng Jin; Neng Nie; Yingqi Shao; Yizhou Zheng
Journal:  Blood Sci       Date:  2021-12-06

Review 3.  Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Authors:  L Tom Vlasveld; Roel Janssen; Edouard Bardou-Jacquet; Hanka Venselaar; Houda Hamdi-Roze; Hal Drakesmith; Dorine W Swinkels
Journal:  Pharmaceuticals (Basel)       Date:  2019-09-09
  3 in total

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