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Liu, D. L1CAM Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4355 (accessed on 29 September 2026).
Liu D. L1CAM Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4355. Accessed September 29, 2026.
Liu, Dean. "L1CAM Gene" Encyclopedia, https://encyclopedia.pub/entry/4355 (accessed September 29, 2026).
Liu, D. (2020, December 23). L1CAM Gene. In Encyclopedia. https://encyclopedia.pub/entry/4355
Liu, Dean. "L1CAM Gene." Encyclopedia. Web. 23 December, 2020.
L1CAM Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/l1cam

L1 cell adhesion molecule

genes

References

  1. Christaller WA, Vos Y, Gebre-Medhin S, Hofstra RM, Schäfer MK. L1 syndromediagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Clin Genet. 2017 Jan;91(1):115-120. doi:10.1111/cge.12763.
  2. Ferese R, Zampatti S, Griguoli AM, Fornai F, Giardina E, Barrano G, Albano V, Campopiano R, Scala S, Novelli G, Gambardella S. A New Splicing Mutation in theL1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS). J Mol Neurosci. 2016Jul;59(3):376-81. doi: 10.1007/s12031-016-0754-3.
  3. Finckh U, Schröder J, Ressler B, Veske A, Gal A. Spectrum and detection rateof L1CAM mutations in isolated and familial cases with clinically suspectedL1-disease. Am J Med Genet. 2000 May 1;92(1):40-6.
  4. Kenwrick S, Watkins A, De Angelis E. Neural cell recognition molecule L1:relating biological complexity to human disease mutations. Hum Mol Genet. 2000Apr 12;9(6):879-86. Review.
  5. Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D, Mora-López F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2.
  6. Weller S, Gärtner J. Genetic and clinical aspects of X-linked hydrocephalus(L1 disease): Mutations in the L1CAM gene. Hum Mutat. 2001;18(1):1-12. Review.
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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 : Dean Liu
View Times: 645
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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