A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family

by Keze Ma, Dong Luo, Tian Tian, Ning Li, Xiaoguang He, Chunbao Rao, Baimao Zhong, Xiaomei Lu
Published 2019-08-01

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

by Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li
Published 2018-11-01

Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.

by Qi Peng, Siping Li, Keze Ma, Wenrui Li, Qiang Ma, Xiaoguang He, Yuejing He, Ting He, Xiaomei Lu
Published 2015-01-01