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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

Keywords

Internal Medicine Metabolic Disease Sandhoff Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  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
  4. Neote K, McInnes B, Mahuran DJ, Gravel RA (1990) Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest 86:1524–1531Google Scholar
  5. Neufeld EF (1989) Natural history and inherited disorders of a lysosomal enzyme beta-hexosaminidase J Biol Chem 264:10927–10930Google Scholar
  6. O'Dowd BF, Klavins MJ, Willard HF, Gravel R, Lowden JA, Mahuran DJ (1986) Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant gm2 gangliosidosis). J Biol Chem 261:12680–12685Google Scholar
  7. Sandhoff K, Conzelmann E, Neufeld EF, Kaback MM, Suzuki K (1989) The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, vol 2. McGraw-Hill, New York, pp 1807–1839Google Scholar

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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