| 1 | EBSMP, KRT5
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| Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.
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| Glŕsz-Bóna A, Medvecz M, Virágh Z, Hatvani Z, Blazsek A, Kárpáti S.
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| Eur J Dermatol 20(6):698-700. doi: 10.1684/ejd.2010.1080. Epub 2010 Oct 5.
2010
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| 2 | EBSMP, KRT5
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| Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
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| Pascucci M, Posteraro P, Pedicelli C, Provini A, Auricchio L, Paradisi M, Castiglia D.
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| Eur J Dermatol 16(6):620-2.
2006
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| 3 | EBSMP, KRT5
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| Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
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| Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF.
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| Am J Med Genet 86(4):376-9 1999
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| 4 | EBSMP, KRT5
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| A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.
|
| Irvine AD, et al.
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| J Invest Dermatol 108 : 809-810. 1997
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| 5 | EBSMP, KRT5
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| The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
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| Uttam J, et al.
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| Proc Natl Acad Sci U S A 93 : 9079-9084. 1996
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