| 1 | EPPK, KRT9
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| Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.
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| Codispoti A, Colombo E, Zocchi L, Serra V, Pertusi G, Leigheb G, Tiberio R, Bornacina G, Zuccoli R, Ramponi A, Campione E, Melino G, Terrinoni A.
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| Eur J Dermatol 19(2):114-8. Epub 2008 Dec 23.
2009
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| 2 | EPPK, KRT9
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| Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma.
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| Feng W, Han W, Man X, Jiang M, Bian C, Wang G, Li X, Yi D, Li J.
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| Eur J Dermatol 18(4):387-90. Epub 2008 Jun 23.PMID: 18573708 2008
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| 3 | KRT9, EPPK
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| A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.
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| He XH, Zhang XN, Mao W, Chen HP, Xu LR, Chen H, He XL, Le YP.
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| Br J Dermatol 150(4):647-51. 2004
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| 4 | EPPK, KRT9
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| A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.
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| Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y.
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| Am J Med Genet 120A(3):345-9. 2003
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| 5 | EPPK
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| Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation.
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| Küster W, Reis A, Hennies HC.
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| Arch Dermatol Res 294(6):268-72. Epub 2002 Jul 2.
2002
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| 6 | EPPK, KRT16, KRT9, NEPPK, PC117
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| A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.
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| Terrinoni A, Puddu P, Didona B, De Laurenzi V, Candi E, Smith FJ, McLean WH, Melino G.
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| J Invest Dermatol 114(6):1136-40.
2000
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| 7 | EPPK
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| Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.
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| Coleman CM, et al.
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| Br J Dermatol 140(3):486-490. 1999
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| 8 | EPPK, KRT9
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| Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma.
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| Yang JM, Lee S, Kang HJ, Lee JH, Yeo UC, Son IY, Park KB, Steinert PM, Lee ES.
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| Acta Derm Venereol 78 : 412-416. 1998
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| 9 | EPPK, KRT9
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| Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
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| Covello SP, et al.
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| J Invest Dermatol 111 : 1207-1209. 1998
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| 10 | EPPK, KRT9
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| A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.
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| Endo H, Hatamochi A, Shinkai H.
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| J Invest Dermatol 109(1):113-5. 1997
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| 11 | EPPK, KRT9
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| Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation.
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| Kobayashi S, et al.
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| FEBS Lett 386 : 149-155. 1996
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| 12 | EPPK, KRT9
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| Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.
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| Rothnagel JA, et al.
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| J Invest Dermatol 104 : 430-433. 1995
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| 13 | EPPK, KRT9
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| Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.
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| Navsaria HA, et al.
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| J Invest Dermatol 104 : 425-429. 1995
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| 14 | 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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| 15 | EPPK, KRT9
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| Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.
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| Torchard D, et al.
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| Nat Genet 6 : 106-110. 1994
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| 16 | EPPK, KRT9
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| Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
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| Reis A, et al.
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| Nat Genet 6 : 174-179. 1994
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| 17 | EPPK, KRT9
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| Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
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| Hennies HC, et al.
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| Hum Genet 93 : 649-654. 1994
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| 18 | EPPK, KRT9
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| Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.
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| Bonifas JM, et al.
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| J Invest Dermatol 103 : 474-477. 1994
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| 19 | EPPK, KRT9
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| Mutations in adjacent codons of human keratin 9 (HK9) gene found in EPPK patients.
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| Bowden PE, et al.
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| Br J Dermatol 131 : 425. 1994
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| 20 | EPPK
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| Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at the 17q12-q21.
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| Reis A, et al.
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| Hum Genet 90 : 113-116. 1992
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