Human Genetics

, Volume 90, Issue 3, pp 328–329 | Cite as

Deletion of the 5′-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease

  • Pieter A. Bolhuis
  • Hennie Bikker
Letter to the Editors


Internal Medicine Metabolic Disease Sandhoff Disease 
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  1. Bikker H, Berg FM van den, Wolterman RA, Vijlder JJM de, Bolhuis PA (1989) Demonstration of a Sandhoff disease-associated autosomal 50 kb deletion by field inversion gel electrophoresis. Hum Genet 81:287–288Google Scholar
  2. Bikker H, Berg FM van den, Wolterman RA, Kleijer WJ, Vijlder JJM de, Bolhuis PA (1990) Distribution and characterization of a Sandhoff disease-associated 50 kb deletion in the gene encoding the human beta-hexosaminidase beta-chain. Hum Genet 85:327–329Google Scholar
  3. Neote K, Bapat B, Dumbrille-Ross A, Froxel C, Schuster SM, Mahuran DJ, Gravel RA (1988) Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase. Genomics 3:279–286Google Scholar
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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Pieter A. Bolhuis
    • 1
  • Hennie Bikker
    • 1
  1. 1.Department of Experimental MedicineAcademic Medical CenterAZ AmsterdamThe Netherlands

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