| 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 | EBS5A, KRT5
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| Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
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| Rugg EL, et al.
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| Eur J Hum Genet 7(3):293-300. 1999
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| 3 | EBS5A, KRT5
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| A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosasimplex.
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| Nomura K, et al.
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| J Invest Dermatol 107 : 253-254. 1996
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| 4 | EBS2B, EBS5A, KRT14
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| Keratin 14 gene point mutation in the Kšbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.
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| Hachisuka H, Morita M, Karashima T, Sasai Y.
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| Arch Dermatol Res 287(2):142-5. 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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