Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen – the main component of the anchoring fibrils at the dermal–epidermal junction. Besides the 730 mutations reported, we...

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Detalles Bibliográficos
Autores principales: Lin, Ying, Chen, Xue-Jun, Liu, Wei, Gong, Bo, Xie, Jun, Xiong, Jun-Hao, Cheng, Jing, Duan, Xi-Ling, Lin, Zhao-Chun, Huang, Lu-Lin, Wan, Hui-Ying, Liu, Xiao-Qi, Song, Lin-Hong, Yang, Zheng-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511513/
https://www.ncbi.nlm.nih.gov/pubmed/23226319
http://dx.doi.org/10.1371/journal.pone.0050579

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