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5. Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. Rothnagel JA; Wojcik S; Liefer KM; Dominey AM; Huber M; Hohl D; Roop DR J Invest Dermatol; 1995 Mar; 104(3):430-3. PubMed ID: 7532199 [TBL] [Abstract][Full Text] [Related]
6. Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. Yang JM; Lee S; Kang HJ; Lee JH; Yeo UC; Son IY; Park KB; Steinert PM; Lee ES Acta Derm Venereol; 1998 Nov; 78(6):412-6. PubMed ID: 9833037 [TBL] [Abstract][Full Text] [Related]
7. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. Coleman CM; Munro CS; Smith FJ; Uitto J; McLean WH Br J Dermatol; 1999 Mar; 140(3):486-90. PubMed ID: 10233272 [TBL] [Abstract][Full Text] [Related]
8. Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. Navsaria HA; Swensson O; Ratnavel RC; Shamsher M; McLean WH; Lane EB; Griffiths D; Eady RA; Leigh IM J Invest Dermatol; 1995 Mar; 104(3):425-9. PubMed ID: 7532198 [TBL] [Abstract][Full Text] [Related]
9. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. Covello SP; Irvine AD; McKenna KE; Munro CS; Nevin NC; Smith FJ; Uitto J; McLean WH J Invest Dermatol; 1998 Dec; 111(6):1207-9. PubMed ID: 9856842 [TBL] [Abstract][Full Text] [Related]
11. Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hennies HC; Küster W; Mischke D; Reis A Hum Mol Genet; 1995 Jun; 4(6):1015-20. PubMed ID: 7544663 [TBL] [Abstract][Full Text] [Related]
12. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Reis A; Küster W; Eckardt R; Sperling K Hum Genet; 1992; 90(1-2):113-6. PubMed ID: 1385292 [TBL] [Abstract][Full Text] [Related]
13. The molecular genetics of keratin disorders. Smith F Am J Clin Dermatol; 2003; 4(5):347-64. PubMed ID: 12688839 [TBL] [Abstract][Full Text] [Related]
14. Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. Terron-Kwiatkowski A; van Steensel MA; van Geel M; Lane EB; McLean WH; Steijlen PM J Invest Dermatol; 2006 Mar; 126(3):607-13. PubMed ID: 16439967 [TBL] [Abstract][Full Text] [Related]
15. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. Whittock NV; Smith FJ; Wan H; Mallipeddi R; Griffiths WA; Dopping-Hepenstal P; Ashton GH; Eady RA; McLean WH; McGrath JA J Invest Dermatol; 2002 May; 118(5):838-44. PubMed ID: 11982762 [TBL] [Abstract][Full Text] [Related]
16. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hennies HC; Zehender D; Kunze J; Küster W; Reis A Hum Genet; 1994 Jun; 93(6):649-54. PubMed ID: 7516304 [TBL] [Abstract][Full Text] [Related]
17. Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. Kobayashi S; Tanaka T; Matsuyoshi N; Imamura S FEBS Lett; 1996 May; 386(2-3):149-55. PubMed ID: 8647270 [TBL] [Abstract][Full Text] [Related]
18. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. Lin JH; Lin MH; Yang MH; Chao SC Clin Exp Dermatol; 2004 May; 29(3):308-10. PubMed ID: 15115518 [TBL] [Abstract][Full Text] [Related]
20. Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. Hennies HC; Hagedorn M; Reis A Genomics; 1995 Sep; 29(2):537-40. PubMed ID: 8666405 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]