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; Pellacani, Giovanni; Giannetti, Alberto; Pagani, J.; De Luca, Michele; Tagliafico, Enrico
File in questo prodotto:
File Dimensione Formato  
bjd.13858.pdf

Accesso riservato

Tipologia: Versione pubblicata dall'editore
Dimensione 75.58 kB
Formato Adobe PDF
75.58 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1070508
Citazioni
  • ???jsp.display-item.citation.pmc??? 13
  • Scopus 28
  • ???jsp.display-item.citation.isi??? 26
social impact