Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation
J Dermatol Sci
.
2007 Dec;48(3):229-32.
doi: 10.1016/j.jdermsci.2007.07.014.
Epub 2007 Sep 12.
Authors
Se-Woong Oh
,
Jeong Sun Lee
,
Moon Young Kim
,
Soo-Chan Kim
PMID:
17855059
DOI:
10.1016/j.jdermsci.2007.07.014
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adult
Epidermolysis Bullosa Simplex / genetics*
Female
Genotype
Humans
Infant
Keratin-5 / genetics*
Keratin-5 / metabolism
Male
Phenotype*
Skin / metabolism
Skin / pathology
Substances
Keratin-5