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Liu, D. KRT1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4331 (accessed on 27 September 2026).
Liu D. KRT1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4331. Accessed September 27, 2026.
Liu, Dean. "KRT1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4331 (accessed September 27, 2026).
Liu, D. (2020, December 23). KRT1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4331
Liu, Dean. "KRT1 Gene." Encyclopedia. Web. 23 December, 2020.
KRT1 Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/krt1

Keratin 1

genes

References

  1. Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Keratingene mutations in disorders of human skin and its appendages. Arch BiochemBiophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010.12.019.
  2. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, SteinertPM. A leucine----proline mutation in the H1 subdomain of keratin 1 causesepidermolytic hyperkeratosis. Cell. 1992 Sep 4;70(5):821-8.
  3. DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytichyperkeratosis. Arch Dermatol. 1994 Aug;130(8):1026-35.
  4. Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA,Huber M, Frenk E, Hohl D, Roop DR. Mutations in the rod domains of keratins 1 and10 in epidermolytic hyperkeratosis. Science. 1992 Aug 21;257(5073):1128-30.
  5. Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, ComptonJG. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytichyperkeratosis. J Invest Dermatol. 1994 Jan;102(1):17-23.
  6. Yang JM, Nam K, Kim HC, Lee JH, Park JK, Wu K, Lee ES, Steinert PM. A novelglutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. J Invest Dermatol. 1999Mar;112(3):376-9.
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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: 921
Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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