Condition: Abnormal thalamic MRI signal intensity
rs121907972 in
HEXA gene and
Abnormal thalamic MRI signal intensity
PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
PMID 9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.