Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa
Articolo
Data di Pubblicazione:
2015
Citazione:
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa / Tenedini, Elena; Artuso, Lucia; Bernardis, Isabella; Artusi, Valentina; Percesepe, Antonio; De Rosa, Laura; Contin, Roberta; Manfredini, Rossella; Pellacani, Giovanni; Giannetti, Alberto; Pagani, J.; De Luca, Michele; Tagliafico, Enrico. - In: BRITISH JOURNAL OF DERMATOLOGY. - ISSN 0007-0963. - STAMPA. - 173:3(2015), pp. 731-738. [10.1111/bjd.13858]
Abstract:
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 labour-intensive and expensive clinical pathways.
Tipologia CRIS:
Articolo su rivista
Keywords:
targeted-sequencing, amplicon-based sequencing, next generation sequencing; diagnosis, mutation, epidermolysis bullosa
Elenco autori:
Tenedini, Elena; Artuso, Lucia; Bernardis, Isabella; Artusi, Valentina; Percesepe, Antonio; De Rosa, Laura; Contin, Roberta; Manfredini, Rossella; Pellacani, Giovanni; Giannetti, Alberto; Pagani, J.; De Luca, Michele; Tagliafico, Enrico
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