Focal dermal hypoplasia resulting from a new nonsense mutation, p. E300X, in the PORCN gene
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概要
- 論文の詳細を見る
- 2008-01-01
著者
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MCGRATH John
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular
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Mcgrath John
Genetic Skin Disease Group And The Robin Eady National Diagnostic Epidermolysis Bullosa Research Lab
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Mcgrath John
Genetic Skin Disease Group St. John's Institute Of Dermatology Division Of Genetics And Molecul
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Arita Ken
Genetic Skin Disease Group St. John's Institute Of Dermatology Division Of Genetics And Molecul
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CLEMENTS Suzanne
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular
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WESSAGOWIT Vesarat
Institute of Dermatology
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LAI-CHEONG Joey
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular
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Lai-cheong Joey
Genetic Skin Disease Group St. John's Institute Of Dermatology Division Of Genetics And Molecul
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Clements Suzanne
Genetic Skin Disease Group St. John's Institute Of Dermatology Division Of Genetics And Molecul
関連論文
- 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