Article
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.
Molecular genetics & genomic medicine - 1 Jun 2020
Wang Chao, Liu Yang, Cai Fengying, Zhang Xinjie, Xu Xiaowei, Li Yani, Zou Qianqian, Zheng Jie, Zhang Yuqin, Guo Wei, Cai Chunquan, Shu Jianbo
Abstract excerpt
BACKGROUND: Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia. Early screening and diagnosis are important. The mutation spectrum of the MMACHC gene causing cblC varies among populations. The mutation spectrum in Chinese population is notably...
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