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References

These sources were used to develop the Genetics Home Reference gene summary on the KRT1 gene.

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010.12.019. Epub 2010 Dec 19. Review. PubMed citation
Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM. A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell. 1992 Sep 4;70(5):821-8. PubMed citation
DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol. 1994 Aug;130(8):1026-35. PubMed citation
Entrez Gene
OMIM: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
OMIM: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE
OMIM: KERATOSIS PALMOPLANTARIS STRIATA III
OMIM: KERATIN 1
OMIM: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
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 and 10 in epidermolytic hyperkeratosis. Science. 1992 Aug 21;257(5073):1128-30. PubMed citation
Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Jan;102(1):17-23. PubMed citation
Yang JM, Nam K, Kim HC, Lee JH, Park JK, Wu K, Lee ES, Steinert PM. A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. J Invest Dermatol. 1999 Mar;112(3):376-9. PubMed citation


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