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

The cystathionine β-synthase (CBS) gene has been shown to be related to homocystinuria. This study was aimed to detect the mutations in CBS in a Han Chinese family with homocystinuria. A four-generation family from Shandong Province of China was recruited in this study. All available members of the...

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Udgivet i:Sci Rep
Main Authors: Gong, Bo, Liu, Liping, Li, Zhiwei, Ye, Zimeng, Xiao, Ying, Zeng, Guangqun, Shi, Yi, Wang, Yumeng, Feng, Xiaoyun, Li, Xiulan, Hao, Fang, Liu, Xiaoqi, Qu, Chao, Li, Yuanfeng, Mu, Guoying, Yang, Zhenglin
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678370/
https://ncbi.nlm.nih.gov/pubmed/26667307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep17947
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