Condition: Cherry red spot of the macula
rs1057519463 in
HEXA gene and
Cherry red spot of the macula
PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
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.