| 1 | EBS3A, KRT5
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| A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
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| Flohil SC, Bolling MC, Kooi KA, Lemmink HH, Jonkman MF.
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| Eur J Dermatol 20(1):27-9. doi: 10.1684/ejd.2010.0804. Epub 2009 Oct 2.
2010
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| 2 | EBS3A, KRT5
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| A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.
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| Kowalewski C, Hamada T, Wozniak K, Kawano Y, Szczecinska W, Yasumoto S, Schwartz RA, Hashimoto T.
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| Int J Mol Med 20(1):75-8.
2007
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| 3 | EBS3A, KRT5
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| K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne).
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| Liovic M, Podrumac B, Dragos V, Vouk K, Komel R.
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| Hum Hered 50(4):234-236. 2000
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| 4 | EBS2A, EBS2B, EBS3A, EBS3B, EBS5A, EBS5B, KRT5, KRT14
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| Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
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| Sorensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N.
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| J Invest Dermatol 112(2):184-90. 1999
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| 5 | EBS3A, EBS3B, KRT5, KRT14
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| Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
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| Muller FB, Kuster W, Bruckner-Tuderman L, Korge BP.
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| J Invest Dermatol 111(5):900-2. 1998
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| 6 | EBS3A, KRT5
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| A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.
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| Nomura K, Umeki K, Meng X, Tamai K, Sawamura D, Hosokawa M, Miyazawa T, Funayama M, Hashimoto I.
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| Arch Dermatol Res 289(8):493-5. 1997
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| 7 | EBS2B, EBS3A, KRT14, KRT5
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| Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
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| Humphries MM, Mansergh FC, Kiang AS, Jordan SA, Sheils DM, Martin MJ, Farrar GJ, Kenna PF, Young MM, Humphries P.
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| Hum Mutat 8(1):57-63. 1996
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| 8 | EBS3A, KRT5
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| A common keratin 5 gene mutation in epidermolysis bullosa Simplex-Weber-Cockayne.
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| Ehrlich P, et al.
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| J Invest Dermatol 104 : 877-879. 1995
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| 9 | 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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| 10 | EBS2A, EBS2B, EBS3A, EBS3B
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| Missing links : Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.
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| Rugg EL, et al.
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| Nat Genet 5 : 294-300. 1993
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| 11 | EBS2A, EBS2B, EBS3A, EBS3B
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| Linkage of epidermolysis bullosa simplex to keratin gene loci.
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| McKenna KE, et al.
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| J Med Genet 29 : 568-570. 1992
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| 12 | EBS2A, EBS2B, EBS3A, EBS3B
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| Epidermolysis bullosa simplex : evidence in two families for keratin gene abnormalities.
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| Bonifas JM, et al.
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| Science 254 : 1202-1205. 1991
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