The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis

The precise classification of epidermolysis bullosa (EB) into 4 main types and more than 30 subtypes is based on the level of skin cleavage, as well as clinical and molecular features, and is crucial for early prognostication, case management, genetic counselling and prenatal or pre-implantation dia...

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Bibliographic Details
Main Authors: Cristina Has, Julia Küsel, Antonia Reimer, Julia Hoffmann, Franziska Schauer, Andreas Zimmer, Judith Fischer
Format: Article
Language:English
Published: Society for Publication of Acta Dermato-Venereologica 2018-01-01
Series:Acta Dermato-Venereologica
Subjects:
epidermolysisbullosa
adhesion
blistering
skinfragility
mutation
keratin
collagen
Online Access: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2863

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