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.

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. - 173:3(2015), pp. 731-738. [10.1111/bjd.13858]

Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa

PELLACANI, Giovanni;DE LUCA, Michele;
2015

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.
2015
targeted-sequencing; amplicon-based sequencing; next generation sequencing; diagnosis; mutation; epidermolysis bullosa
01 Pubblicazione su rivista::01a Articolo in rivista
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. - 173:3(2015), pp. 731-738. [10.1111/bjd.13858]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1483619
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