Article
Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.
Archives of dermatological research - 1 Jan 1995
Hachisuka H, Morita M, Karashima T, Sasai Y
Abstract excerpt
Recent advances in molecular biology have enabled the association of epidermolysis bullosa simplex (EBS) with point mutations of keratin 14 and/or keratin 5 genes to be established. We describe here the detection of point mutations in genomic DNA from formalin-fixed and paraffin-embedded sections...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- Epidermolysis Bullosa Simplex
- Humans
- Keratins
- Molecular Sequence Data
- Point Mutation
- Polymerase Chain Reaction
- Protein Structure, Secondary
- Templates, Genetic