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Xu, C. GM2-Gangliosidosis, AB Variant. Encyclopedia. Available online: https://encyclopedia.pub/entry/3941 (accessed on 27 September 2026).
Xu C. GM2-Gangliosidosis, AB Variant. Encyclopedia. Available at: https://encyclopedia.pub/entry/3941. Accessed September 27, 2026.
Xu, Camila. "GM2-Gangliosidosis, AB Variant" Encyclopedia, https://encyclopedia.pub/entry/3941 (accessed September 27, 2026).
Xu, C. (2020, December 23). GM2-Gangliosidosis, AB Variant. In Encyclopedia. https://encyclopedia.pub/entry/3941
Xu, Camila. "GM2-Gangliosidosis, AB Variant." Encyclopedia. Web. 23 December, 2020.
GM2-Gangliosidosis, AB Variant
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gm2-gangliosidosis-ab-variant

GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

genetic conditions

References

  1. Chen B, Rigat B, Curry C, Mahuran DJ. Structure of the GM2A gene:identification of an exon 2 nonsense mutation and a naturally occurringtranscript with an in-frame deletion of exon 2. Am J Hum Genet. 1999Jul;65(1):77-87.
  2. Mahuran DJ. Biochemical consequences of mutations causing the GM2gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. Review.
  3. Sakuraba H, Itoh K, Shimmoto M, Utsumi K, Kase R, Hashimoto Y, Ozawa T, OhwadaY, Imataka G, Eguchi M, Furukawa T, Schepers U, Sandhoff K. GM2 gangliosidosis ABvariant: clinical and biochemical studies of a Japanese patient. Neurology. 1999 Jan 15;52(2):372-7.
  4. Schepers U, Glombitza G, Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K.Molecular analysis of a GM2-activator deficiency in two patients withGM2-gangliosidosis AB variant. Am J Hum Genet. 1996 Nov;59(5):1048-56.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 867
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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