Mcgrath John | Genetic Skin Disease Group And The Robin Eady National Diagnostic Epidermolysis Bullosa Research Lab

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著作論文

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

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