Article
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
American journal of human genetics - 1 Apr 1996
Christiano A M, McGrath J A, Tan K C, Uitto J
Abstract excerpt
The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin and mucous membranes. DEB can be inherited in either an autosomal dominant or autosomal recessive pattern, and the spectrum of clinical severity is highly variable. The unifying diagnostic hallmark of D...
Topics
- Adult
- Base Sequence
- Child, Preschool
- Collagen
- DNA Mutational Analysis
- Epidermolysis Bullosa Dystrophica
- Female
- Genes, Dominant
- Genes, Recessive
- Glycine
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation