Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was suspected. Using whole-exome sequencing for on...

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Detalles Bibliográficos
Autores principales: UDDIN, Syed Ashraf, CESARATO, Nicole, HUMBATOVA, Aytaj, SCHMIDT, Axel, REHMAN, Fazal UR, NAEEM, Muhammad, WOLF, Sabrina, TAREEN, Abdul Samad, PANEZAI, Muhammad Anwar, THIELE, Holger, WALI, Abdul, FÖLSTER-HOLST, Regina, BASIT, Sulman, AYUB, Muhammad, BETZ, Regina C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Publication of Acta Dermato-Venereologica 2020
Materias:
Investigative Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235007/
https://www.ncbi.nlm.nih.gov/pubmed/32926178
http://dx.doi.org/10.2340/00015555-3634

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