Article

New RDEB intermediate variant with in-frame partial exon skipping in FN III-like domain of type VII collagen

2022-09-04

Abstract excerpt

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a debilitating genodermatosis caused by pathogenic mutations in the COL7A1 gene, which induce absence or reduction in the number of anchoring fibrils. The severity of RDEB depends on the mutation type and localization, but many aspects of this dependence remain to be elucidated. Here, we report a novel variant of RDEB Intermediate in two unrelated patients. Thei...

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Literature Corpus work: a278753f-1fe6-5f0e-8ad2-8fe3adfb572c
DOI: 10.1101/2022.09.02.22278356

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