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Li, V. GALT Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5623 (accessed on 21 September 2026).
Li V. GALT Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5623. Accessed September 21, 2026.
Li, Vivi. "GALT Gene" Encyclopedia, https://encyclopedia.pub/entry/5623 (accessed September 21, 2026).
Li, V. (2020, December 25). GALT Gene. In Encyclopedia. https://encyclopedia.pub/entry/5623
Li, Vivi. "GALT Gene." Encyclopedia. Web. 25 December, 2020.
GALT Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/galt

Galactose-1-phosphate uridylyltransferase

genes

References

  1. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. 2000 Feb 4[updated 2020 Jul 2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1518/
  2. Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ,Waterham HR. Identification of novel mutations in classical galactosemia. HumMutat. 2005 May;25(5):502.
  3. Coelho AI, Trabuco M, Ramos R, Silva MJ, Tavares de Almeida I, Leandro P,Rivera I, Vicente JB. Functional and structural impact of the most prevalentmissense mutations in classic galactosemia. Mol Genet Genomic Med. 2014Nov;2(6):484-96. doi: 10.1002/mgg3.94.
  4. Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Duarte VariantGalactosemia. 2014 Dec 4 [updated 2020 Jun 25]. In: Adam MP, Ardinger HH, PagonRA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK258640/
  5. McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ. Misfolding of galactose1-phosphate uridylyltransferase can result in type I galactosemia. BiochimBiophys Acta. 2013 Aug;1832(8):1279-93. doi: 10.1016/j.bbadis.2013.04.004.
  6. McCorvie TJ, Timson DJ. Structural and molecular biology of type Igalactosemia: disease-associated mutations. IUBMB Life. 2011 Nov;63(11):949-54.doi: 10.1002/iub.510.
  7. McCorvie TJ, Timson DJ. The structural and molecular biology of type Igalactosemia: Enzymology of galactose 1-phosphate uridylyltransferase. IUBMBLife. 2011 Sep;63(9):694-700. doi: 10.1002/iub.511.
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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 : Vivi Li
View Times: 953
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
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