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Li, V. FAH Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5508 (accessed on 21 September 2026).
Li V. FAH Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5508. Accessed September 21, 2026.
Li, Vivi. "FAH Gene" Encyclopedia, https://encyclopedia.pub/entry/5508 (accessed September 21, 2026).
Li, V. (2020, December 25). FAH Gene. In Encyclopedia. https://encyclopedia.pub/entry/5508
Li, Vivi. "FAH Gene." Encyclopedia. Web. 25 December, 2020.
FAH Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fah

Fumarylacetoacetate hydrolase: The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. 

genes

References

  1. Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E.Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetatehydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat. 2002 Sep;20(3):180-8.
  2. Demers SI, Russo P, Lettre F, Tanguay RM. Frequent mutation reversioninversely correlates with clinical severity in a genetic liver disease,hereditary tyrosinemia. Hum Pathol. 2003 Dec;34(12):1313-20.
  3. Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S,Guillén-López S, Vela-Amieva M. Tyrosinemia type I: clinical and biochemicalanalysis of patients in Mexico. Ann Hepatol. 2014 Mar-Apr;13(2):265-72.
  4. Pérez-Carro R, Sánchez-Alcudia R, Pérez B, Navarrete R, Pérez-Cerdá C, Ugarte M, Desviat LR. Functional analysis and in vitro correction of splicing FAHmutations causing tyrosinemia type I. Clin Genet. 2014 Aug;86(2):167-71. doi:10.1111/cge.12243.
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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: 843
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
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