| 1 | 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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| 2 | 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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| 3 | EBS3B, EBS5B, KRT14
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| Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
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| Hu ZL, Smith L, Martins S, Bonifas JM, Chen H, Epstein EH Jr.
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| J Invest Dermatol 109(3):360-4. 1997
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| 4 | EBS2B, EBS3B, EBS5B, KRT14
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| Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.
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| Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH Jr.
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| J Invest Dermatol 105(4):629-32. 1995
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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 | EBS3B, KRT14
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| A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
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| Yamanishi K, Matsuki M, Konishi K, Yasuno H.
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| Hum Mol Genet 3(7):1171-2. 1994
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| 7 | EBS2B, EBS3B, EBS5B, KRT14
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| A functional knockout of human keratin 14.
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| Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA.
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| Genes Dev 8(21):2563-73. 1994
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| 8 | 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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| 9 | EBS3B, KRT14
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| A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.
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| Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH Jr.
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| Hum Mol Genet 2(11):1971-2. 1993
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| 10 | EBS3B, KRT14
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| A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
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| Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P.
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| Hum Mutat 2(1):37-42. 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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