| 1 | KRT17, PC217
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| Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.
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| Oh Adib C, Jones B, Liao H, Smith FJ, Solomon R, Egan CA, Leachman S.
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| Arch Dermatol Res 300(5):211-4. Epub 2008 Mar 18. No abstract available. PMID: 18347808 2008
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| 2 | KRT17, PC217
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| A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.
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| Tsuda T, Ishikawa C, Nakagawa N, Konishi H, Tarutani M, Matsuki M, Yamanishi K.
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| Br J Dermatol 159(3):730-2. Epub 2008 Jun 28. No abstract available. PMID: 18547302 2008
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| 3 | KRT17, PC217
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| A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
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| Xiao SX, Feng YG, Ren XR, Tan SS, Li L, Wang JM, Shi YZ.
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| J Invest Dermatol 122(4):892-5. 2004
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| 4 | PC112, PC117, PC212, PC217, KRT17, KRT16, KRT6A
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| Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
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| Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH.
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| J Invest Dermatol 117(6):1391-6. 2001
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| 5 | PC217, KRT17
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| Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.
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| Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M.
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| J Invest Dermatol 113(5):848-50 1999
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| 6 | PC217, KRT17
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| Pachyonychia congenita type 2 : keratin 17 mutation in a Japanese case.
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| Fujimoto W, et al.
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| J Am Acad Dermatol 38 : 1007-1009. 1998
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| 7 | PC217, KRT17
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| Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
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| Covello SP, et al.
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| Br J Dermatol 139 : 475-480. 1998
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| 8 | PC217, KRT17
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| Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
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| Smith FJD, et al.
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| J Invest Dermatol 108 : 220-223. 1997
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| 9 | KRT16, PC117, PC217, KRT17
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| Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
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| McLean WHI, et al.
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| Nat Genet 9 : 273-278. 1995
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