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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-04-01
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Series: | Biomolecules |
Subjects: | |
Online Access: | https://www.mdpi.com/2218-273X/11/5/620 |