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Prenatal Diagnosis of Tay-Sachs Disease
- 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