Rapid screening of MMACHC gene mutations by high ‐resolution melting curve analysis

ConclusionThe established PCR ‐HRM method for screening common pathogenicMMACHC variants in Chinese patients with cblC has the advantages of high accuracy, high throughput, low cost, and high speed. It is suitable for the large ‐sample screening of suspected children with methylmalonic acidemia and carriers in population.

Source: Molecular Genetics & Genomic Medicine - March 21, 2020 Category: Genetics & Stem Cells Authors: Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu Tags: ORIGINAL ARTICLE Source Type: research