Literature DB >> 21669542

Identification of two novel PBGD mutations in acute intermittent porphyria patients accompanying anemia in mainland China.

Gang Liu, Xiaoqing Li, Huijun Shu, Yu-Lin Hu, Greg Anderson, Jiaming Qian, Guangjun Nie.   

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Year:  2011        PMID： 21669542     DOI： 10.1016/j.bcmd.2011.05.004

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


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  2 in total

1.  Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.

Authors:  Yongjiang Zheng; Jiehua Xu; Shengran Liang; Dongjun Lin; Santasree Banerjee
Journal:  Front Genet       Date:  2018-04-20       Impact factor: 4.599

2.  A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.

Authors:  Yi Ren; Lin-Xin Xu; Yun-Feng Liu; Chen-Yu Xiang; Fei Gao; Yan Wang; Tao Bai; Jian-Hong Yin; Yang-Lu Zhao; Jing Yang
Journal:  Medicine (Baltimore)       Date:  2018-09       Impact factor: 1.817
  2 in total

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