Article
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
World journal of pediatrics : WJP - 1 Apr 2018
Li Dong-Xiao, Li Xi-Yuan, Dong Hui, Liu Yu-Peng, Ding Yuan, Song Jin-Qing, Jin Ying, Zhang Yao, Wang Qiao, Yang Yan-Ling
Abstract excerpt
BACKGROUND: Classical homocystinuria (homocysteinemia type 1, MIM# 236200) is a rare inherited disorder in Mainland China. This study aimed to identify mutations in the cystathionine β-synthase (CBS) gene which are associated with classical homocystinuria in nine Chinese patients. METHODS: Nine Chinese patients were diagnosed at the age of 5 years 4 months to 18 years by plasma total homocysteine and blood...
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