Article
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.
The British journal of dermatology - 1 Sept 2015
Tenedini E, Artuso L, Bernardis I, Artusi V, Percesepe A, De Rosa L, Contin R, Manfredini R, Pellacani G, Giannetti A, Pagani J, De Luca M, Tagliafico E
Abstract excerpt
BACKGROUND: Epidermolysis bullosa (EB) is caused by mutations in genes that encode proteins belonging to the epidermal-dermal junction assembly. Due to the extreme clinical/genetic heterogeneity of the disease, the current methods available for diagnosing EB involve immunohistochemistry of biopsy samples and transmission electron microscopy followed by single-candidate gene Sanger sequencing (SS), which are...
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