Associated Papers
Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.
Bchetnia M et al.
The Crispr Journal, 2022
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.
Hanneken S et al.
The British Journal of Dermatology, 2010
Generalized Dowling-Degos disease.
Wu YH et al.
Journal of the American Academy of Dermatology, 2007
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.
Liao H et al.
The Journal of Investigative Dermatology, 2007
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
Betz RC et al.
American Journal of Human Genetics, 2006
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