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Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

The aim of the present study was to identify the causative gene defects associated with epidermolysis bullosa simplex (EBS) in a pedigree. The diagnosis of EBS was confirmed in two patients from that pedigree based on the clinical manifestations, histopathological examination of the skin and family...

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Detalhes bibliográficos
Publicado no:Exp Ther Med
Main Authors: GAO, JIAJIA, WANG, XUEBIN, ZHENG, FANG, DONG, SUFANG, QIU, XUEPING
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4665702/
https://ncbi.nlm.nih.gov/pubmed/26668653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2015.2811
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