Open AccessGLA missense and promoter variants co-segregating in a Chinese family with Fabry disease
Author(s) -
Zheyi Dong,
Qian Wang,
Shupeng Lin,
Pu Chen,
Jiaona Liu,
Shuwen Liu,
Guangyan Cai,
Xiangmei Chen,
Quan Hong
Publication year - 2020
Publication title -
annals of translational medicine
Language(s) - English
Resource type - Journals
eISSN - 2305-5847
pISSN - 2305-5839
DOI - 10.21037/atm-19-4510
Subject(s) - missense mutation , fabry disease , medicine , single nucleotide polymorphism , genetics , snp , gene , exon , disease , exome sequencing , genetic counseling , mutation , biology , genotype
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