Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes

Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes

Epidermolysis bullosa (EB) includes a group of rare gesnodermatoses that result in blistering and erosions of the skin and mucous membranes. Genetically, pathogenic variants in around 20 genes are known to alter the structural and functional integrity of intraepidermal adhesion and dermo-epidermal a...

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Bibliographic Details
Main Authors: Fehmida F. Khan, Naima Khan, Sakina Rehman, Amir Ejaz, Uzma Ali, Muhammad Erfan, Zubair M. Ahmed, Muhammad Naeem
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Biomolecules
Subjects:
epidermolysis bullosa
whole exome sequencing
<i>PLEC</i>
<i>ITGB4</i>
EBS-Ogna
Online Access:https://www.mdpi.com/2218-273X/11/5/620

Internet

https://www.mdpi.com/2218-273X/11/5/620

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