Article
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.
Clinical laboratory - 1 Jan 2017
Wu Ning, Jin Liang, Wang Gang
Abstract excerpt
BACKGROUND: Epidermolysis bullosa pruriginosa (DEB-Pr) is a rare disease caused by mutations in the collagen, type VII, alpha 1 (COL7A1) gene. Here, we identified a novel COL7A1 mutation in a Chinese family with DEB-Pr. METHODS: Blood samples were obtained from 4 affected individuals of the 16-member family for isolation of genomic DNA. The COL7A1 exons were then amplified using PCR for direct sequencing. Two...
Topics
- Adult
- Amino Acid Substitution
- Asian People
- Biopsy
- China
- Collagen Type VII
- DNA Mutational Analysis
- Epidermolysis Bullosa Dystrophica
- Exons
- Female
- Genetic Predisposition to Disease
- Heredity
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction