Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Abstract Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a c...

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Bibliographic Details
Main Authors: Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
COL7A1 gene
dystrophic epidermolysis bullosa
minigene system
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1907

Internet

https://doi.org/10.1002/mgg3.1907

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