Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.

Jayesh ShethMehul MistriLakshmi MahadevanSanjeev MehtaDhaval SolankiMahesh KamateFrenny Sheth

Published in: BMC medical genetics (2018)

This is the first report of deletion/duplication in HEXA gene providing a new insight into the molecular basis of TSD and use of MLPA assay for detecting large copy number changes in the HEXA gene.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
genome wide identification
young adults
gene expression
single cell