スポンサーリンク
Genetic Skin Disease Group And The Robin Eady National Diagnostic Epidermolysis Bullosa Research Lab | 論文
- A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family
- Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence : Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa
- Neonatal diagnosis of Kindler syndrome
- Molecular Basis of Lipoid Proteinosis in Two Indian Siblings
- Focal dermal hypoplasia resulting from a new nonsense mutation, p. E300X, in the PORCN gene
- Human hair abnormalities resulting from inherited desmosome gene mutations
- Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus
- Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases