Naseer, M. I., Abdulkareem, A. A., Jan, M. M., Chaudhary, A. G. and Al-Qahtani, M. H. (2020) “Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family”, Pakistan Journal of Medical Sciences, 36(6). doi: 10.12669/pjms.36.6.2579.