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Prenatal Diagnosis of Tay-Sachs Disease

Authors :
Jinglan, Zhang
Hongjie, Chen
Ruth, Kornreich
Chunli, Yu
Source :
Methods in molecular biology (Clifton, N.J.). 1885
Publication Year :
2018

Abstract

Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G

Details

ISSN :
19406029
Volume :
1885
Database :
OpenAIRE
Journal :
Methods in molecular biology (Clifton, N.J.)
Accession number :
edsair.pmid..........b94051ceed145413aacf41688e7af5a5