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. - STAMPA. - 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

TENEDINI, Elena;ARTUSO, LUCIA;BERNARDIS, ISABELLA;ARTUSI, VALENTINA;PERCESEPE, Antonio;DE ROSA, LAURA;CONTIN, ROBERTA;MANFREDINI, Rossella;PELLACANI, Giovanni;GIANNETTI, Alberto;DE LUCA, Michele;TAGLIAFICO, Enrico
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
29-lug-2015
173
3
731
738
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]
Tenedini, Elena; Artuso, Lucia; Bernardis, Isabella; Artusi, Valentina; Percesepe, Antonio; De Rosa, Laura; Contin, Roberta; Manfredini, Rossella; Pel...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1070508
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