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Li, V. EXT1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5480 (accessed on 21 September 2026).
Li V. EXT1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5480. Accessed September 21, 2026.
Li, Vivi. "EXT1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5480 (accessed September 21, 2026).
Li, V. (2020, December 24). EXT1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5480
Li, Vivi. "EXT1 Gene." Encyclopedia. Web. 24 December, 2020.
EXT1 Gene
Edit

Exostosin glycosyltransferase 1

genes

References

  1. Francannet C, Cohen-Tanugi A, Le Merrer M, Munnich A, Bonaventure J,Legeai-Mallet L. Genotype-phenotype correlation in hereditary multiple exostoses.J Med Genet. 2001 Jul;38(7):430-4.
  2. Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L, Wakeling E, Blair E,Morava E, Monaco AP, Ragoussis J. Determination of the mutation spectrum of theEXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat. 2006Nov;27(11):1160.
  3. Maas S, Shaw A, Bikker H, Hennekam RCM. Trichorhinophalangeal Syndrome. 2017Apr 20. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK425926/
  4. Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M,Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den HollanderNS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A,Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, NielsenM, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, RieublandC, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van denEnde J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Phenotype and genotype in 103 patients withtricho-rhino-phalangeal syndrome. Eur J Med Genet. 2015 May;58(5):279-92. doi:10.1016/j.ejmg.2015.03.002.
  5. McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressorsEXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus andcatalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000 Jan18;97(2):668-73.
  6. Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F,Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU,Matsushita M, Raskind WH, Willems PJ. Mutations in the EXT1 and EXT2 genes inhereditary multiple exostoses. Am J Hum Genet. 1998 Feb;62(2):346-54.
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Update Date: 24 Dec 2020
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