present in Gene: GFM2;HEXB
present in Chromosome: 5
Position on Chromosome: 74720731
Alleles of this Variant: C/T
rs764552042 in
GFM2;HEXB gene and
Sandhoff Disease
PMID 22848519 2012 Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
PMID 27682710 2016 Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
PMID 22789865 2012 GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
PMID 21567908 2011 GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
PMID 23113155 2012 Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.
PMID 26582265 2016 Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.