| 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 | EBS2A
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| Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
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| Stephens K, et al.
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| Am J Hum Genet 56 : 577-585. 1995
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| 3 | 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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| 4 | 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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| 5 | EBS2A, KRT5
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| Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kšbner type of epidermolysis bullosa simplex.
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| Dong W, et al.
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| Hum Mutat 2 : 94-102. 1993
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| 6 | EBS2A
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| A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.
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| Lane EB, et al.
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| Nature 356 : 244-246. 1992
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| 7 | 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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| 8 | EBS2A
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| Evidence for an epidermolysis bullosa simplex homozygote.
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| Sybert V, et al.
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| Am J Hum Genet 51 : A229. 1992
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| 9 | 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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| 10 | EBS2A
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| Mapping of epidermolysis bullosa simplex mutation to chromosome 12.
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| RyynŠnen M, et al.
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| Am J Hum Genet 49 : 978-984. 1991
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| 11 | EBS2A, KRT5
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| Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.
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| Ishida-Yamamoto A, et al.
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| J Invest Dermatol 97 : 959-968. 1991
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