| 1 | EHK1, KRT1
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| Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
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| Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H.
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| J Invest Dermatol 127(6):1371-4. Epub 2007 Feb 1.
2007
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| 2 | EHK1, KRT1
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| A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis.
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| Yang JM, et al.
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| J Invest Dermatol 112(3):376-9. 1999
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| 3 | EHK1, KRT1
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| An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
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| Kremer H, et al.
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| J Invest Dermatol 111 : 1224-1226. 1998
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| 4 | EHK1, KRT1
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| A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis.
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| Yang JM, et al.
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| J Invest Dermatol 107 : 439-441. 1996
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| 5 | EHK1, EHK2, EBS2A, EBS2B, EBS3A, EBS3B, EBS5A, EBS5B, EPPK
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| Epidermal disease : faulty keratin filaments take their toll.
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| Compton JG.
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| Nat Genet 6 : 6-7. 1994
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| 6 | EHK1
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| Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
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| Chipev CC, et al.
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| Am J Hum Genet 54 : 179-190. 1994
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| 7 | KRT1, EHK1
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| Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
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| Yang JM, et al.
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| J Invest Dermatol 102 : 17-23. 1994
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| 8 | KRT1, KRT10, EHK1, EHK2
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| Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
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| McLean WHI, et al.
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| J Invest Dermatol 102 : 24-30. 1994
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| 9 | EHK1, EHK2, KRT1, KRT10
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| Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
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| Syder AJ, et al.
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| J Clin Invest 93 : 1533-1542. 1994
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| 10 | EHK1, EHK2
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| Distinct clinical phenotypes in Epidermolytic Hyperkeratosis (EH) : correlation with mutations in keratin 1 or keratin 10.
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| Bale SJ, et al.
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| Am J Hum Genet 53 : 247. 1993
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| 11 | EHK1, KRT1
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| Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster.
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| Pulkkinen L, et al.
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| J Clin Invest 91 : 357-361. 1993
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| 12 | EHK1, EHK2, KRT1, KRT10
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| Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
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| Rothnagel JA, et al.
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| Science 257 : 1128-1130. 1992
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| 13 | EHK1
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| A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.
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| Chipev CC, et al.
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| Cell 70 : 821-828. 1992
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| 14 | EHK1
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| Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
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| Compton JG, et al.
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| Nat Genet 1 : 301-305. 1992
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| 15 | KRT1, KRT10, EHK1, EHK2
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| Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma.
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| Ishida-Yamamoto A, et al.
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| J Invest Dermatol 99 : 19-26. 1992
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| 16 | EHK1
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| Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form.
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| Nazzaro V, Ermacora E, Santucci B, Caputo R.
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| Br J Dermatol 122(3):417-22. 1990
|