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