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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Fehmida F. Khan, Naima Khan, Sakina Rehman, Amir Ejaz, Uzma Ali, Muhammad Erfan, Zubair M. Ahmed, Muhammad Naeem
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2021-04-01
Col·lecció:	Biomolecules
Matèries:	epidermolysis bullosa whole exome sequencing <i>PLEC</i> <i>ITGB4</i> EBS-Ogna
Accés en línia:	https://www.mdpi.com/2218-273X/11/5/620
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!