Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa

BACKGROUND: Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐of‐function mutation in the gene encoding ty...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Yang, Neng, Ma, Yongyi, Yao, Hong, Chang, Qing, Zhang, Victor, Liang, Zhiqing, Cai, Xiongwei
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
Konular:
Clinical Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434731/
https://ncbi.nlm.nih.gov/pubmed/32537942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1347
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