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Article

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

Scientific reports - 15 Dec 2015

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

Abstract excerpt

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 family underwent comprehensive medical examinations. Genomic DNA was collected from peripheral blood of all the...

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Identifiers

PMID: 26667307
DOI: 10.1038/srep17947
PMCID: PMC4678370

Genes

CBS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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