Literature DB >> 21240075

CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.

Jeffrey Sung-Shing Kwok, Simon Loi-Mo Fung, Grace Chung-Yan Lui, Eric Lap-Kay Law, Michael Ho-Ming Chan, Chi-Bon Leung, Nelson Leung-Sang Tang.   

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Year:  2011        PMID： 21240075     DOI： 10.1097/PAT.0b013e3283419dbb

Source DB:  PubMed          Journal:  Pathology        ISSN： 0031-3025            Impact factor:   5.306


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  2 in total

1.  Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.

Authors:  Dong-Xiao Li; Xi-Yuan Li; Hui Dong; Yu-Peng Liu; Yuan Ding; Jin-Qing Song; Ying Jin; Yao Zhang; Qiao Wang; Yan-Ling Yang
Journal:  World J Pediatr       Date:  2018-03-05       Impact factor: 2.764

2.  Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.

Authors:  Bo Gong; Liping Liu; Zhiwei Li; Zimeng Ye; Ying Xiao; Guangqun Zeng; Yi Shi; Yumeng Wang; Xiaoyun Feng; Xiulan Li; Fang Hao; Xiaoqi Liu; Chao Qu; Yuanfeng Li; Guoying Mu; Zhenglin Yang
Journal:  Sci Rep       Date:  2015-12-15       Impact factor: 4.379
  2 in total

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