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Liu, D. ITPR1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4254 (accessed on 29 September 2026).
Liu D. ITPR1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4254. Accessed September 29, 2026.
Liu, Dean. "ITPR1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4254 (accessed September 29, 2026).
Liu, D. (2020, December 23). ITPR1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4254
Liu, Dean. "ITPR1 Gene." Encyclopedia. Web. 23 December, 2020.
ITPR1 Gene
Edit

Inositol 1,4,5-trisphosphate receptor type 1

genes

References

  1. Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A,Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G.Identification of novel and hotspot mutations in the channel domain of ITPR1 intwo patients with Gillespie syndrome. Gene. 2017 Sep 10;628:141-145. doi:10.1016/j.gene.2017.07.017.
  2. Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, OrssaudC, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A,Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, YuleDI, Rozet JM, Fares Taie L. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. Am J Hum Genet. 2016 May 5;98(5):971-980. doi:10.1016/j.ajhg.2016.03.004.
  3. Hall HN, Williamson KA, FitzPatrick DR. The genetic architecture of aniridiaand Gillespie syndrome. Hum Genet. 2019 Sep;138(8-9):881-898. doi:10.1007/s00439-018-1934-8.
  4. McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E,Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E,Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J,McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P,Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, vanHeyningen V, Marsh JA, Elmslie F, FitzPatrick DR. A Restricted Repertoire of DeNovo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence forDominant-Negative Effect. Am J Hum Genet. 2016 May 5;98(5):981-992. doi:10.1016/j.ajhg.2016.03.018.
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Update Date: 23 Dec 2020
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